Canonical Allele Identifier: CA385287309

Gene: ERBB3

Linked Data

• dbSNP Id: rs1329534370
• gnomAD v2: 12-56481850-C-T
• MyVariant Identifiers: chr12:g.56481850C>T (hg19) ; chr12:g.56088066C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56088066C>T , CM000674.2:g.56088066C>T	GRCh38
NC_000012.11:g.56481850C>T , CM000674.1:g.56481850C>T	GRCh37
NC_000012.10:g.54768117C>T	NCBI36
NG_011529.1:g.12959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682431.1:n.937C>T
ENST00000683018.1:c.601C>T	ENSP00000506822.1:p.Pro201Ser
ENST00000683059.1:c.601C>T	ENSP00000507402.1:p.Pro201Ser
ENST00000683164.1:c.601C>T	ENSP00000508051.1:p.Pro201Ser
ENST00000683653.1:n.732C>T
ENST00000684500.1:n.907C>T
ENST00000267101.8:c.778C>T MANE Select	ENSP00000267101.4:p.Pro260Ser
ENST00000267101.7:c.778C>T	ENSP00000267101.3:p.Pro260Ser
ENST00000415288.6:c.601C>T	ENSP00000408340.2:p.Pro201Ser
ENST00000546748.1:n.243C>T
ENST00000550869.5:c.25-6415C>T	ENSP00000448671.1:n.25-6415C>T
ENST00000551085.5:c.778C>T	ENSP00000448483.1:p.Pro260Ser
ENST00000551242.5:c.778C>T	ENSP00000447510.1:p.Pro260Ser
NM_001982.3:c.778C>T	NP_001973.2:p.Pro260Ser
NM_001982.4:c.778C>T MANE Select	NP_001973.2:p.Pro260Ser