Canonical Allele Identifier: CA8534584

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 718676
• ClinVar RCV Id: RCV000891665
• dbSNP Id: rs767230649
• ExAC: 17:37884078 C / T
• gnomAD v2: 17-37884078-C-T
• gnomAD v3: 17-39727825-C-T
• gnomAD v4: 17-39727825-C-T
• COSMIC: COSM5493568 ; COSM5493569
• MyVariant Identifiers: chr17:g.37884078C>T (hg19) ; chr17:g.39727825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727825C>T , CM000679.2:g.39727825C>T	GRCh38
NC_000017.10:g.37884078C>T , CM000679.1:g.37884078C>T	GRCh37
NC_000017.9:g.35137604C>T	NCBI36
NG_007503.1:g.44686C>T , LRG_724:g.44686C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3549C>T MANE Select	ENSP00000269571.4:p.Asp1183=
ENST00000269571.9:c.3549C>T	ENSP00000269571.4:p.Asp1183=
ENST00000406381.6:c.3459C>T	ENSP00000385185.2:p.Asp1153=
ENST00000445658.6:c.2721C>T	ENSP00000404047.2:p.Asp907=
ENST00000541774.5:c.3504C>T	ENSP00000446466.1:p.Asp1168=
ENST00000578373.5:c.*3339C>T	ENSP00000463427.1:n.*3339C>T
ENST00000584450.5:c.*128C>T	ENSP00000463714.1:n.*128C>T
ENST00000584601.5:c.3459C>T	ENSP00000462438.1:p.Asp1153=
NM_001005862.2:c.3459C>T , LRG_724t1:c.3459C>T	NP_001005862.1:p.Asp1153=
NM_001289936.1:c.3504C>T , LRG_724t4:c.3504C>T	NP_001276865.1:p.Asp1168=
NM_001289937.1:c.*128C>T	NP_001276866.1:n.*128C>T
NM_004448.3:c.3549C>T , LRG_724t2:c.3549C>T	NP_004439.2:p.Asp1183=
NR_110535.1:n.3873C>T
XM_024450641.1:c.3687C>T	XP_024306409.1:p.Asp1229=
XM_024450642.1:c.3642C>T	XP_024306410.1:p.Asp1214=
XM_024450643.1:c.3597C>T	XP_024306411.1:p.Asp1199=
NM_001005862.3:c.3459C>T	NP_001005862.1:p.Asp1153=
NM_001289936.2:c.3504C>T	NP_001276865.1:p.Asp1168=
NM_001289937.2:c.*128C>T	NP_001276866.1:n.*128C>T
NM_001382782.1:c.3459C>T	NP_001369711.1:p.Asp1153=
NM_001382783.1:c.3459C>T	NP_001369712.1:p.Asp1153=
NM_001382784.1:c.3666C>T	NP_001369713.1:p.Asp1222=
NM_001382785.1:c.3651C>T	NP_001369714.1:p.Asp1217=
NM_001382786.1:c.3630C>T	NP_001369715.1:p.Asp1210=
NM_001382787.1:c.3624C>T	NP_001369716.1:p.Asp1208=
NM_001382788.1:c.3579C>T	NP_001369717.1:p.Asp1193=
NM_001382789.1:c.3570C>T	NP_001369718.1:p.Asp1190=
NM_001382790.1:c.3546C>T	NP_001369719.1:p.Asp1182=
NM_001382791.1:c.3540C>T	NP_001369720.1:p.Asp1180=
NM_001382792.1:c.3513C>T	NP_001369721.1:p.Asp1171=
NM_001382793.1:c.3507C>T	NP_001369722.1:p.Asp1169=
NM_001382794.1:c.3507C>T	NP_001369723.1:p.Asp1169=
NM_001382795.1:c.3501C>T	NP_001369724.1:p.Asp1167=
NM_001382796.1:c.3462C>T	NP_001369725.1:p.Asp1154=
NM_001382797.1:c.3450C>T	NP_001369726.1:p.Asp1150=
NM_001382798.1:c.3393C>T	NP_001369727.1:p.Asp1131=
NM_001382799.1:c.3369C>T	NP_001369728.1:p.Asp1123=
NM_001382800.1:c.3363C>T	NP_001369729.1:p.Asp1121=
NM_001382801.1:c.3345C>T	NP_001369730.1:p.Asp1115=
NM_001382802.1:c.3291C>T	NP_001369731.1:p.Asp1097=
NM_001382803.1:c.*128C>T	NP_001369732.1:n.*128C>T
NM_001382804.1:c.2721C>T	NP_001369733.1:p.Asp907=
NM_001382805.1:c.2598C>T	NP_001369734.1:p.Asp866=
NM_001382806.1:c.2511C>T	NP_001369735.1:p.Asp837=
NM_004448.4:c.3549C>T MANE Select	NP_004439.2:p.Asp1183=
NR_110535.2:n.3787C>T