Canonical Allele Identifier: CA8534580

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 1097100
• ClinVar RCV Id: RCV001418566
• dbSNP Id: rs759480536
• ExAC: 17:37884069 C / T
• gnomAD v2: 17-37884069-C-T
• gnomAD v3: 17-39727816-C-T
• gnomAD v4: 17-39727816-C-T
• MyVariant Identifiers: chr17:g.37884069C>T (hg19) ; chr17:g.39727816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727816C>T , CM000679.2:g.39727816C>T	GRCh38
NC_000017.10:g.37884069C>T , CM000679.1:g.37884069C>T	GRCh37
NC_000017.9:g.35137595C>T	NCBI36
NG_007503.1:g.44677C>T , LRG_724:g.44677C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3540C>T MANE Select	ENSP00000269571.4:p.Val1180=
ENST00000269571.9:c.3540C>T	ENSP00000269571.4:p.Val1180=
ENST00000406381.6:c.3450C>T	ENSP00000385185.2:p.Val1150=
ENST00000445658.6:c.2712C>T	ENSP00000404047.2:p.Val904=
ENST00000541774.5:c.3495C>T	ENSP00000446466.1:p.Val1165=
ENST00000578373.5:c.*3330C>T	ENSP00000463427.1:n.*3330C>T
ENST00000584450.5:c.*119C>T	ENSP00000463714.1:n.*119C>T
ENST00000584601.5:c.3450C>T	ENSP00000462438.1:p.Val1150=
NM_001005862.2:c.3450C>T , LRG_724t1:c.3450C>T	NP_001005862.1:p.Val1150=
NM_001289936.1:c.3495C>T , LRG_724t4:c.3495C>T	NP_001276865.1:p.Val1165=
NM_001289937.1:c.*119C>T	NP_001276866.1:n.*119C>T
NM_004448.3:c.3540C>T , LRG_724t2:c.3540C>T	NP_004439.2:p.Val1180=
NR_110535.1:n.3864C>T
XM_024450641.1:c.3678C>T	XP_024306409.1:p.Val1226=
XM_024450642.1:c.3633C>T	XP_024306410.1:p.Val1211=
XM_024450643.1:c.3588C>T	XP_024306411.1:p.Val1196=
NM_001005862.3:c.3450C>T	NP_001005862.1:p.Val1150=
NM_001289936.2:c.3495C>T	NP_001276865.1:p.Val1165=
NM_001289937.2:c.*119C>T	NP_001276866.1:n.*119C>T
NM_001382782.1:c.3450C>T	NP_001369711.1:p.Val1150=
NM_001382783.1:c.3450C>T	NP_001369712.1:p.Val1150=
NM_001382784.1:c.3657C>T	NP_001369713.1:p.Val1219=
NM_001382785.1:c.3642C>T	NP_001369714.1:p.Val1214=
NM_001382786.1:c.3621C>T	NP_001369715.1:p.Val1207=
NM_001382787.1:c.3615C>T	NP_001369716.1:p.Val1205=
NM_001382788.1:c.3570C>T	NP_001369717.1:p.Val1190=
NM_001382789.1:c.3561C>T	NP_001369718.1:p.Val1187=
NM_001382790.1:c.3537C>T	NP_001369719.1:p.Val1179=
NM_001382791.1:c.3531C>T	NP_001369720.1:p.Val1177=
NM_001382792.1:c.3504C>T	NP_001369721.1:p.Val1168=
NM_001382793.1:c.3498C>T	NP_001369722.1:p.Val1166=
NM_001382794.1:c.3498C>T	NP_001369723.1:p.Val1166=
NM_001382795.1:c.3492C>T	NP_001369724.1:p.Val1164=
NM_001382796.1:c.3453C>T	NP_001369725.1:p.Val1151=
NM_001382797.1:c.3441C>T	NP_001369726.1:p.Val1147=
NM_001382798.1:c.3384C>T	NP_001369727.1:p.Val1128=
NM_001382799.1:c.3360C>T	NP_001369728.1:p.Val1120=
NM_001382800.1:c.3354C>T	NP_001369729.1:p.Val1118=
NM_001382801.1:c.3336C>T	NP_001369730.1:p.Val1112=
NM_001382802.1:c.3282C>T	NP_001369731.1:p.Val1094=
NM_001382803.1:c.*119C>T	NP_001369732.1:n.*119C>T
NM_001382804.1:c.2712C>T	NP_001369733.1:p.Val904=
NM_001382805.1:c.2589C>T	NP_001369734.1:p.Val863=
NM_001382806.1:c.2502C>T	NP_001369735.1:p.Val834=
NM_004448.4:c.3540C>T MANE Select	NP_004439.2:p.Val1180=
NR_110535.2:n.3778C>T