Canonical Allele Identifier: CA499890547

Gene: ERBB2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3457C>A MANE Select	ENSP00000269571.4:p.Arg1153=
ENST00000269571.9:c.3457C>A	ENSP00000269571.4:p.Arg1153=
ENST00000406381.6:c.3367C>A	ENSP00000385185.2:p.Arg1123=
ENST00000445658.6:c.2629C>A	ENSP00000404047.2:p.Arg877=
ENST00000541774.5:c.3412C>A	ENSP00000446466.1:p.Arg1138=
ENST00000578373.5:c.*3247C>A	ENSP00000463427.1:n.*3247C>A
ENST00000584450.5:c.*36C>A	ENSP00000463714.1:n.*36C>A
ENST00000584601.5:c.3367C>A	ENSP00000462438.1:p.Arg1123=
NM_001005862.2:c.3367C>A , LRG_724t1:c.3367C>A	NP_001005862.1:p.Arg1123=
NM_001289936.1:c.3412C>A , LRG_724t4:c.3412C>A	NP_001276865.1:p.Arg1138=
NM_001289937.1:c.*36C>A	NP_001276866.1:n.*36C>A
NM_004448.3:c.3457C>A , LRG_724t2:c.3457C>A	NP_004439.2:p.Arg1153=
NR_110535.1:n.3781C>A
XM_024450641.1:c.3595C>A	XP_024306409.1:p.Arg1199=
XM_024450642.1:c.3550C>A	XP_024306410.1:p.Arg1184=
XM_024450643.1:c.3505C>A	XP_024306411.1:p.Arg1169=
NM_001005862.3:c.3367C>A	NP_001005862.1:p.Arg1123=
NM_001289936.2:c.3412C>A	NP_001276865.1:p.Arg1138=
NM_001289937.2:c.*36C>A	NP_001276866.1:n.*36C>A
NM_001382782.1:c.3367C>A	NP_001369711.1:p.Arg1123=
NM_001382783.1:c.3367C>A	NP_001369712.1:p.Arg1123=
NM_001382784.1:c.3574C>A	NP_001369713.1:p.Arg1192=
NM_001382785.1:c.3559C>A	NP_001369714.1:p.Arg1187=
NM_001382786.1:c.3538C>A	NP_001369715.1:p.Arg1180=
NM_001382787.1:c.3532C>A	NP_001369716.1:p.Arg1178=
NM_001382788.1:c.3487C>A	NP_001369717.1:p.Arg1163=
NM_001382789.1:c.3478C>A	NP_001369718.1:p.Arg1160=
NM_001382790.1:c.3454C>A	NP_001369719.1:p.Arg1152=
NM_001382791.1:c.3448C>A	NP_001369720.1:p.Arg1150=
NM_001382792.1:c.3421C>A	NP_001369721.1:p.Arg1141=
NM_001382793.1:c.3415C>A	NP_001369722.1:p.Arg1139=
NM_001382794.1:c.3415C>A	NP_001369723.1:p.Arg1139=
NM_001382795.1:c.3409C>A	NP_001369724.1:p.Arg1137=
NM_001382796.1:c.3370C>A	NP_001369725.1:p.Arg1124=
NM_001382797.1:c.3358C>A	NP_001369726.1:p.Arg1120=
NM_001382798.1:c.3301C>A	NP_001369727.1:p.Arg1101=
NM_001382799.1:c.3277C>A	NP_001369728.1:p.Arg1093=
NM_001382800.1:c.3271C>A	NP_001369729.1:p.Arg1091=
NM_001382801.1:c.3253C>A	NP_001369730.1:p.Arg1085=
NM_001382802.1:c.3199C>A	NP_001369731.1:p.Arg1067=
NM_001382803.1:c.*36C>A	NP_001369732.1:n.*36C>A
NM_001382804.1:c.2629C>A	NP_001369733.1:p.Arg877=
NM_001382805.1:c.2506C>A	NP_001369734.1:p.Arg836=
NM_001382806.1:c.2419C>A	NP_001369735.1:p.Arg807=
NM_004448.4:c.3457C>A MANE Select	NP_004439.2:p.Arg1153=
NR_110535.2:n.3695C>A