Canonical Allele Identifier: CA14481387
Gene: ERBB2 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.39696844C>T
GRCh37 chr17:g.37853097C>T
gnomAD v2:
17:37853097 C / T
gnomAD v3:
17:39696844 C / T
gnomAD v4:
chr17-39696844-C-T
Joint Max Group AF 0.65878586 (NFE)
Genomes Max Group AF 0.65908113 (NFE)
Exomes Max Group AF 0.45177207 (NFE)
dbSNP:
2517951
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39696844C>T , CM000679.2:g.39696844C>T GRCh38
NC_000017.10:g.37853097C>T , CM000679.1:g.37853097C>T GRCh37
NC_000017.9:g.35106623C>T NCBI36
NG_007503.1:g.13705C>T , LRG_724:g.13705C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000406381.6:c.-18+1663C>T ENSP00000385185.2:n.-18+1663C>T
ENST00000578199.5:c.-18+1663C>T ENSP00000462808.1:n.-18+1663C>T
ENST00000584601.5:c.-69+1663C>T ENSP00000462438.1:n.-69+1663C>T
NM_001005862.2:c.-18+1663C>T , LRG_724t1:c.-18+1663C>T NP_001005862.1:n.-18+1663C>T
NM_001289936.1:c.-24+1663C>T , LRG_724t4:c.-24+1663C>T NP_001276865.1:n.-24+1663C>T
NM_001289938.1:c.-18+1663C>T , LRG_724t3:c.-18+1663C>T NP_001276867.1:n.-18+1663C>T
XM_024450642.1:c.-24+1663C>T XP_024306410.1:n.-24+1663C>T
XM_024450643.1:c.-18+1663C>T XP_024306411.1:n.-18+1663C>T
NM_001005862.3:c.-18+1663C>T NP_001005862.1:n.-18+1663C>T
NM_001289936.2:c.-24+1663C>T NP_001276865.1:n.-24+1663C>T
NM_001289938.2:c.-18+1663C>T NP_001276867.1:n.-18+1663C>T
NM_001382782.1:c.-18+1663C>T NP_001369711.1:n.-18+1663C>T
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