Canonical Allele Identifier: CA385287289

Gene: ERBB3

Linked Data

• ClinVar Variation Id: 2557018
• ClinVar RCV Id: RCV004329248
• dbSNP Id: rs2136795119
• MyVariant Identifiers: chr12:g.56481848G>A (hg19) ; chr12:g.56088064G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56088064G>A , CM000674.2:g.56088064G>A	GRCh38
NC_000012.11:g.56481848G>A , CM000674.1:g.56481848G>A	GRCh37
NC_000012.10:g.54768115G>A	NCBI36
NG_011529.1:g.12957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682431.1:n.935G>A
ENST00000683018.1:c.599G>A	ENSP00000506822.1:p.Cys200Tyr
ENST00000683059.1:c.599G>A	ENSP00000507402.1:p.Cys200Tyr
ENST00000683164.1:c.599G>A	ENSP00000508051.1:p.Cys200Tyr
ENST00000683653.1:n.730G>A
ENST00000684500.1:n.905G>A
ENST00000267101.8:c.776G>A MANE Select	ENSP00000267101.4:p.Cys259Tyr
ENST00000267101.7:c.776G>A	ENSP00000267101.3:p.Cys259Tyr
ENST00000415288.6:c.599G>A	ENSP00000408340.2:p.Cys200Tyr
ENST00000546748.1:n.241G>A
ENST00000549472.1:n.519G>A
ENST00000550869.5:c.25-6417G>A	ENSP00000448671.1:n.25-6417G>A
ENST00000551085.5:c.776G>A	ENSP00000448483.1:p.Cys259Tyr
ENST00000551242.5:c.776G>A	ENSP00000447510.1:p.Cys259Tyr
NM_001982.3:c.776G>A	NP_001973.2:p.Cys259Tyr
NM_001982.4:c.776G>A MANE Select	NP_001973.2:p.Cys259Tyr