Canonical Allele Identifier: CA385287416

Gene: ERBB3

Linked Data

• dbSNP Id: rs2136795241
• gnomAD v4: 12-56088082-A-G
• MyVariant Identifiers: chr12:g.56481866A>G (hg19) ; chr12:g.56088082A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56088082A>G , CM000674.2:g.56088082A>G	GRCh38
NC_000012.11:g.56481866A>G , CM000674.1:g.56481866A>G	GRCh37
NC_000012.10:g.54768133A>G	NCBI36
NG_011529.1:g.12975A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682431.1:n.953A>G
ENST00000683018.1:c.617A>G	ENSP00000506822.1:p.Tyr206Cys
ENST00000683059.1:c.617A>G	ENSP00000507402.1:p.Tyr206Cys
ENST00000683164.1:c.617A>G	ENSP00000508051.1:p.Tyr206Cys
ENST00000683653.1:n.748A>G
ENST00000684500.1:n.923A>G
ENST00000267101.8:c.794A>G MANE Select	ENSP00000267101.4:p.Tyr265Cys
ENST00000267101.7:c.794A>G	ENSP00000267101.3:p.Tyr265Cys
ENST00000415288.6:c.617A>G	ENSP00000408340.2:p.Tyr206Cys
ENST00000546748.1:n.259A>G
ENST00000550869.5:c.25-6399A>G	ENSP00000448671.1:n.25-6399A>G
ENST00000551085.5:c.794A>G	ENSP00000448483.1:p.Tyr265Cys
ENST00000551242.5:c.794A>G	ENSP00000447510.1:p.Tyr265Cys
NM_001982.3:c.794A>G	NP_001973.2:p.Tyr265Cys
NM_001982.4:c.794A>G MANE Select	NP_001973.2:p.Tyr265Cys