Canonical Allele Identifier: CA344533918

Gene: CR2

Linked Data

• dbSNP Id: rs143614333
• MyVariant Identifiers: chr1:g.207646222G>C (hg19) ; chr1:g.207472877G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207472877G>C , CM000663.2:g.207472877G>C	GRCh38
NC_000001.10:g.207646222G>C , CM000663.1:g.207646222G>C	GRCh37
NC_000001.9:g.205712845G>C	NCBI36
NG_013006.1:g.23578G>C , LRG_348:g.23578G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699620.1:c.1307G>C	ENSP00000514480.1:p.Gly436Ala
ENST00000699621.1:c.1296G>C
ENST00000367057.8:c.1676G>C MANE Select	ENSP00000356024.3:p.Gly559Ala
ENST00000640301.1:c.126G>C	ENSP00000491608.1:n.126G>C
ENST00000367057.7:c.1676G>C	ENSP00000356024.3:p.Gly559Ala
ENST00000367058.7:c.1676G>C	ENSP00000356025.3:p.Gly559Ala
ENST00000367059.3:c.1676G>C	ENSP00000356026.3:p.Gly559Ala
NM_001006658.2:c.1676G>C , LRG_348t1:c.1676G>C	NP_001006659.1:p.Gly559Ala
NM_001877.4:c.1676G>C	NP_001868.2:p.Gly559Ala
XM_011509206.1:c.1307G>C	XP_011507508.1:p.Gly436Ala
XM_011509206.3:c.1307G>C	XP_011507508.1:p.Gly436Ala
NM_001006658.3:c.1676G>C MANE Select	NP_001006659.1:p.Gly559Ala
NM_001877.5:c.1676G>C	NP_001868.2:p.Gly559Ala