chr17:39724738:A>TGGCTGG Detail (hg38) (ERBB2)

Information

Genome

Assembly Position
hg19 chr17:37,880,991-37,880,991 View the variant detail on this assembly version.
hg38 chr17:39,724,738-39,724,738

HGVS

Type Transcript Protein
RefSeq NM_004448.3:c.2320delinsTGGCTGG NP_004439.2:p.Met774delinsTrpLeuVal
NM_001289937.1:c.2320delinsTGGCTGG NP_001276866.1:p.Met774delinsTrpLeuVal
NM_001005862.2:c.2230delinsTGGCTGG NP_001005862.1:p.Met744delinsTrpLeuVal
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 164870 OMIM
HGNC 3430 HGNC
Ensembl ENSG00000141736 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Dacomitinib C Predictive Supports Sensitivity/Response Somatic 3 25899785 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Phase 2 trial of ERBB-inhibitor dacomitinib in stage IIIB/IV lung cancers with HER2 mutations or amp... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr17:39,724,738-39,724,738
Variant Type
snv
Reference Allele
A
Alternative Allele
TGGCTGG
Variant (CIViC) (CIViC Variant)
M774DELINSWLV
Transcript 1 (CIViC Variant)
ENST00000269571.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/818
Genome browser