ENST00000420999.2 EFHC2

Information
Transcript ID
ENST00000420999.2
Genome
hg19
Position
chrX:44,007,118-44,202,918
Strand
-
CDS length
2,250
Amino acid length
750
Gene symbol
EFHC2
Gene type
protein-coding
Gene description
EF-hand domain containing 2
Gene Entrez Gene ID
80258
Variants

Display target variant


Search Word
Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
15 44,007,118 44,008,142
14 44,023,168 44,023,273
13 44,035,538 44,035,630
12 44,037,613 44,037,810
11 44,088,895 44,089,025
10 44,091,727 44,091,923
9 44,094,551 44,094,693
8 44,101,367 44,101,535
7 44,107,518 44,107,656
6 44,108,049 44,108,162
5 44,109,440 44,109,691
4 44,120,321 44,120,544
3 44,131,932 44,132,082
2 44,171,814 44,172,002
1 44,202,793 44,202,918
CDS
Exon number Type Start Stop
15 CDS 44,008,041 44,008,142
14 CDS 44,023,168 44,023,273
13 CDS 44,035,538 44,035,630
12 CDS 44,037,613 44,037,810
11 CDS 44,088,895 44,089,025
10 CDS 44,091,727 44,091,923
9 CDS 44,094,551 44,094,693
8 CDS 44,101,367 44,101,535
7 CDS 44,107,518 44,107,656
6 CDS 44,108,049 44,108,162
5 CDS 44,109,440 44,109,691
4 CDS 44,120,321 44,120,544
3 CDS 44,131,932 44,132,082
2 CDS 44,171,814 44,172,002
1 CDS 44,202,793 44,202,834
Other genome
Genome Chromosome Start End Links
hg38 chrX 44,147,872 44,343,672 Link
CDS sequence
ATGGCCCTGCCTCTGCTGCCGGGCAACAGCTTCAACCGCAACGTGGGAAAGGAGAAGTTTCACAAATCCCAACATTGGGGCTTTTGCAACAATGTTATGATGTTGGTGAGTGATGAAAAGCCTGGAATAGGTGGAGAACCACTTCTGGGGCAAAAGATAAAGCCTAAATGTAGCATATATCCTAAAGGAGATGGAAGTGATGTACCATCATGGGTAGCCTTTGATAAACAGGTATTATCTTTTGATGCCTATTTGGAAGAGGAAGTACTTGATAAAAGCCAAACCAACTACAGAATAAGATACTATAAAATCTACTTCTACCCTGAAGATGACACAATTCAAGTAAATGAACCAGAGGTGAAAAATAGTGGATTACTTCAAGGGACTTCTATCCGGCGTCATCGGATTACTCTTCCGCCTCCTGATGAGGATCAGTTTTATACTGTGTATCATTTTAATGTCGGCACAGAGGTTGTCTTCTATGGCCGGACATTCAAGATTTATGACTGTGATGCATTCACAAGAAACTTTTTGAGGAAAATAGGGGTCAAAGTGAATCCCCCAGTGCAATGTCCAGAAGATCCTTACATGAAGATTCGGAGAGAGGTTGTAGAACACGTAGAGCCCTTACGTCCCTACGAATCCCTCGACACCCTGAAACAGTTCCTCCAGTATCATGGCAAGATTTTGTGTTTCTTCTGCCTGTGGGATGACTCAGTCTCAATGTTTGGAGACCGTAGAGAACTCATCCTGCATTACTTCTTGTGTGATGATACTATTGAAATCAAAGAATTGCTTCCACACAGCTCAGGCCGAGATGCTCTAAAAATGTTCCTCCGGAGGAGTAAGCTACCCAAGAATTGCCCACCTAGAGTCTATCAACCAGGCCAGATAACAGATCGAGCAGTTCTCAATTCATATGGTGACTTTATAAAGAACCAAGCGGATGGCTACCTGTTCGATAGATATAAGCTAGGAAAAGTAGACCAAGAGTTTTACAAAGATAGTGACCTGTCCCTAGGAGTCACCATCAATGTGTGGGGAAGAAAAGTGCTCCTTTATGACTGTGATGAATTTACGAAGTCTTATTATAAGTCTAAATATGGAATTGAGAACTTTACCTCAGTTTCATGCAAGCCTCCTTCTCCTCCTCCAAAAATAGAAAGGAAATTTCCACCTTACAACGGTTTTGGTTCTGAAGAGGATTCTCTCCGTAACTGCATAGACCTCAAGCCCACACCTCATCGGAGGAACTTCAAGAAGTTTATGGAAAAAGACAGCTATGGCTCCAAAAGCAATATACTCCGTTTTTTTGCAAAACTAGTCACAGACAAATGTGTTGACTTGGACAGGATGTTTGTTATTTCATATTATCTCGGTGATGACACCATTTCAGTGTTTGAACCTATAGAGAGGAATTCAGGAATTGCTGGTGGGATGTTCTTGAAAAGAAGTCGCGTTAAGAAGCCTGGACAAGAAGTCTTTAAAAGTGAACTATCTGAATATATCAAGGCCGAGGAGCTGTACATTGGAGTCACGGTGAATGTGAATGGTTACCTATTTCGTTTGCTCAATGCTGATGAGTATACCTTAAACTACATGGAGCAGAATACAGATAAGTATCCTTTCAGTAACCTCAAACTTGCCCTACAAAAGCTGAAGCAAGAAGAAGGAAAATCCAGAGAGCTCAAGCAGGTATTTAAAGCTGCTGACTCTAAGCACACAAATATGGTGGATTATAATACATTCAGAGACATATTGATGTCTTTGACTGTTGGAAACCTTGCAGAGCAAGAATTTGTAACCATTGCACGTCACTACCGTGTGCCTGAGGGCACATGTTCAGATATGGATTTCTTAATCGCACTGGCCCACGAAAAGTTCAAGAAAAATATGTTTGAGAATTTCGACACTTTCATTTATTCCTGTGTGTATGAAGATCGAGAAAAAAAAAATGTATTACCCACCAAAGACATTAAAAGGCTGTGCAAATCCTCCAGATTACCTTTGAGTGATGATCTTCTAGAATCCTTATTGTCAAGGTTTGAAGACAGTGAAAAACAAATAGATTATAAGTCATTTTTCTCTGCCCTGAACTGGAGAAAGAATCCAGTGCCTGAATTGCAACCAGCATCATACCTTAAAGAGAGATGTGAAGATGTTTGGCTTGGTATGCCATCACCTATTCCTGCGAAATACATTGACTACTGGACCTTTTTGAAGGACGCGTTTGGCTTAGAGGAGGAATAA
Amino sequence
MALPLLPGNSFNRNVGKEKFHKSQHWGFCNNVMMLVSDEKPGIGGEPLLGQKIKPKCSIYPKGDGSDVPSWVAFDKQVLSFDAYLEEEVLDKSQTNYRIRYYKIYFYPEDDTIQVNEPEVKNSGLLQGTSIRRHRITLPPPDEDQFYTVYHFNVGTEVVFYGRTFKIYDCDAFTRNFLRKIGVKVNPPVQCPEDPYMKIRREVVEHVEPLRPYESLDTLKQFLQYHGKILCFFCLWDDSVSMFGDRRELILHYFLCDDTIEIKELLPHSSGRDALKMFLRRSKLPKNCPPRVYQPGQITDRAVLNSYGDFIKNQADGYLFDRYKLGKVDQEFYKDSDLSLGVTINVWGRKVLLYDCDEFTKSYYKSKYGIENFTSVSCKPPSPPPKIERKFPPYNGFGSEEDSLRNCIDLKPTPHRRNFKKFMEKDSYGSKSNILRFFAKLVTDKCVDLDRMFVISYYLGDDTISVFEPIERNSGIAGGMFLKRSRVKKPGQEVFKSELSEYIKAEELYIGVTVNVNGYLFRLLNADEYTLNYMEQNTDKYPFSNLKLALQKLKQEEGKSRELKQVFKAADSKHTNMVDYNTFRDILMSLTVGNLAEQEFVTIARHYRVPEGTCSDMDFLIALAHEKFKKNMFENFDTFIYSCVYEDREKKNVLPTKDIKRLCKSSRLPLSDDLLESLLSRFEDSEKQIDYKSFFSALNWRKNPVPELQPASYLKERCEDVWLGMPSPIPAKYIDYWTFLKDAFGLEEE*