Canonical Allele Identifier: CA399312911

Gene: ERBB2

Linked Data

• dbSNP Id: rs1364766454
• gnomAD v2: 17-37883986-C-T
• gnomAD v3: 17-39727733-C-T
• gnomAD v4: 17-39727733-C-T
• COSMIC: COSM1659147
• MyVariant Identifiers: chr17:g.37883986C>T (hg19) ; chr17:g.39727733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727733C>T , CM000679.2:g.39727733C>T	GRCh38
NC_000017.10:g.37883986C>T , CM000679.1:g.37883986C>T	GRCh37
NC_000017.9:g.35137512C>T	NCBI36
NG_007503.1:g.44594C>T , LRG_724:g.44594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3457C>T MANE Select	ENSP00000269571.4:p.Arg1153Ter
ENST00000269571.9:c.3457C>T	ENSP00000269571.4:p.Arg1153Ter
ENST00000406381.6:c.3367C>T	ENSP00000385185.2:p.Arg1123Ter
ENST00000445658.6:c.2629C>T	ENSP00000404047.2:p.Arg877Ter
ENST00000541774.5:c.3412C>T	ENSP00000446466.1:p.Arg1138Ter
ENST00000578373.5:c.*3247C>T	ENSP00000463427.1:n.*3247C>T
ENST00000584450.5:c.*36C>T	ENSP00000463714.1:n.*36C>T
ENST00000584601.5:c.3367C>T	ENSP00000462438.1:p.Arg1123Ter
NM_001005862.2:c.3367C>T , LRG_724t1:c.3367C>T	NP_001005862.1:p.Arg1123Ter
NM_001289936.1:c.3412C>T , LRG_724t4:c.3412C>T	NP_001276865.1:p.Arg1138Ter
NM_001289937.1:c.*36C>T	NP_001276866.1:n.*36C>T
NM_004448.3:c.3457C>T , LRG_724t2:c.3457C>T	NP_004439.2:p.Arg1153Ter
NR_110535.1:n.3781C>T
XM_024450641.1:c.3595C>T	XP_024306409.1:p.Arg1199Ter
XM_024450642.1:c.3550C>T	XP_024306410.1:p.Arg1184Ter
XM_024450643.1:c.3505C>T	XP_024306411.1:p.Arg1169Ter
NM_001005862.3:c.3367C>T	NP_001005862.1:p.Arg1123Ter
NM_001289936.2:c.3412C>T	NP_001276865.1:p.Arg1138Ter
NM_001289937.2:c.*36C>T	NP_001276866.1:n.*36C>T
NM_001382782.1:c.3367C>T	NP_001369711.1:p.Arg1123Ter
NM_001382783.1:c.3367C>T	NP_001369712.1:p.Arg1123Ter
NM_001382784.1:c.3574C>T	NP_001369713.1:p.Arg1192Ter
NM_001382785.1:c.3559C>T	NP_001369714.1:p.Arg1187Ter
NM_001382786.1:c.3538C>T	NP_001369715.1:p.Arg1180Ter
NM_001382787.1:c.3532C>T	NP_001369716.1:p.Arg1178Ter
NM_001382788.1:c.3487C>T	NP_001369717.1:p.Arg1163Ter
NM_001382789.1:c.3478C>T	NP_001369718.1:p.Arg1160Ter
NM_001382790.1:c.3454C>T	NP_001369719.1:p.Arg1152Ter
NM_001382791.1:c.3448C>T	NP_001369720.1:p.Arg1150Ter
NM_001382792.1:c.3421C>T	NP_001369721.1:p.Arg1141Ter
NM_001382793.1:c.3415C>T	NP_001369722.1:p.Arg1139Ter
NM_001382794.1:c.3415C>T	NP_001369723.1:p.Arg1139Ter
NM_001382795.1:c.3409C>T	NP_001369724.1:p.Arg1137Ter
NM_001382796.1:c.3370C>T	NP_001369725.1:p.Arg1124Ter
NM_001382797.1:c.3358C>T	NP_001369726.1:p.Arg1120Ter
NM_001382798.1:c.3301C>T	NP_001369727.1:p.Arg1101Ter
NM_001382799.1:c.3277C>T	NP_001369728.1:p.Arg1093Ter
NM_001382800.1:c.3271C>T	NP_001369729.1:p.Arg1091Ter
NM_001382801.1:c.3253C>T	NP_001369730.1:p.Arg1085Ter
NM_001382802.1:c.3199C>T	NP_001369731.1:p.Arg1067Ter
NM_001382803.1:c.*36C>T	NP_001369732.1:n.*36C>T
NM_001382804.1:c.2629C>T	NP_001369733.1:p.Arg877Ter
NM_001382805.1:c.2506C>T	NP_001369734.1:p.Arg836Ter
NM_001382806.1:c.2419C>T	NP_001369735.1:p.Arg807Ter
NM_004448.4:c.3457C>T MANE Select	NP_004439.2:p.Arg1153Ter
NR_110535.2:n.3695C>T