Canonical Allele Identifier: CA385316157

Gene: ERBB3

Linked Data

• ClinVar Variation Id: 2582247
• ClinVar RCV Id: RCV003332948
• dbSNP Id: rs2136822757
• MyVariant Identifiers: chr12:g.56492632G>A (hg19) ; chr12:g.56098848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56098848G>A , CM000674.2:g.56098848G>A	GRCh38
NC_000012.11:g.56492632G>A , CM000674.1:g.56492632G>A	GRCh37
NC_000012.10:g.54778899G>A	NCBI36
NG_011529.1:g.23741G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682431.1:n.4268G>A
ENST00000682512.1:n.1123G>A
ENST00000683018.1:c.2605G>A	ENSP00000506822.1:p.Glu869Lys
ENST00000683059.1:c.2605G>A	ENSP00000507402.1:p.Glu869Lys
ENST00000683142.1:n.386G>A
ENST00000683164.1:c.2605G>A	ENSP00000508051.1:p.Glu869Lys
ENST00000683653.1:n.3515G>A
ENST00000684500.1:n.3823G>A
ENST00000684766.1:n.1414-800G>A
ENST00000267101.8:c.2782G>A MANE Select	ENSP00000267101.4:p.Glu928Lys
ENST00000267101.7:c.2782G>A	ENSP00000267101.3:p.Glu928Lys
ENST00000415288.6:c.2605G>A	ENSP00000408340.2:p.Glu869Lys
ENST00000548709.1:n.419G>A
ENST00000549832.1:c.142G>A	ENSP00000448729.1:p.Glu48Lys
ENST00000550070.6:c.703G>A	ENSP00000448946.2:p.Glu235Lys
ENST00000551085.5:c.*199G>A	ENSP00000448483.1:n.*199G>A
ENST00000551242.5:c.989-1334G>A	ENSP00000447510.1:n.989-1334G>A
ENST00000553131.5:c.505G>A	ENSP00000449129.1:p.Glu169Lys
NM_001982.3:c.2782G>A	NP_001973.2:p.Glu928Lys
NM_001982.4:c.2782G>A MANE Select	NP_001973.2:p.Glu928Lys