Canonical Allele Identifier: CA162974
Gene: ERBB2 HGNC NCBI
COSMIC:
COSM4986139 (not active)
MyVariant.info:
GRCh38 chr17:g.39699581C>A
GRCh37 chr17:g.37855834C>A
Revel Score:
ENST00000541774 0.071
gnomAD v2:
17:37855834 C / A
gnomAD v3:
17:39699581 C / A
gnomAD v4:
chr17-39699581-C-A
Joint Max Group AF 0.19200157 (SAS)
Genomes Max Group AF 0.16880571 (SAS)
Exomes Max Group AF 0.19288749 (SAS)
ClinVar RCV:
RCV000122379
ClinVar Variation:
135519
dbSNP:
4252596
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39699581C>A , CM000679.2:g.39699581C>A GRCh38
NC_000017.10:g.37855834C>A , CM000679.1:g.37855834C>A GRCh37
NC_000017.9:g.35109360C>A NCBI36
NG_007503.1:g.16442C>A , LRG_724:g.16442C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000406381.6:c.-18+4400C>A ENSP00000385185.2:n.-18+4400C>A
ENST00000541774.5:c.22C>A ENSP00000446466.1:p.Pro8Thr
ENST00000578199.5:c.-18+4400C>A ENSP00000462808.1:n.-18+4400C>A
ENST00000584601.5:c.-24C>A ENSP00000462438.1:n.-24C>A
NM_001005862.2:c.-18+4400C>A , LRG_724t1:c.-18+4400C>A NP_001005862.1:n.-18+4400C>A
NM_001289936.1:c.22C>A , LRG_724t4:c.22C>A NP_001276865.1:p.Pro8Thr
NM_001289938.1:c.-18+4400C>A , LRG_724t3:c.-18+4400C>A NP_001276867.1:n.-18+4400C>A
XM_024450642.1:c.22C>A XP_024306410.1:p.Pro8Thr
XM_024450643.1:c.-18+4400C>A XP_024306411.1:n.-18+4400C>A
NM_001005862.3:c.-18+4400C>A NP_001005862.1:n.-18+4400C>A
NM_001289936.2:c.22C>A NP_001276865.1:p.Pro8Thr
NM_001289938.2:c.-18+4400C>A NP_001276867.1:n.-18+4400C>A
NM_001382782.1:c.-18+4400C>A NP_001369711.1:n.-18+4400C>A
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