Canonical Allele Identifier: CA423138952

Gene: CR2

Linked Data

• dbSNP Id: rs1658322301
• gnomAD v4: 1-207472884-A-G
• MyVariant Identifiers: chr1:g.207646229A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207472884A>G , CM000663.2:g.207472884A>G	GRCh38
NC_000001.10:g.207646229A>G , CM000663.1:g.207646229A>G	GRCh37
NC_000001.9:g.205712852A>G	NCBI36
NG_013006.1:g.23585A>G , LRG_348:g.23585A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699620.1:c.1314A>G	ENSP00000514480.1:p.Glu438=
ENST00000699621.1:c.1303A>G
ENST00000367057.8:c.1683A>G MANE Select	ENSP00000356024.3:p.Glu561=
ENST00000640301.1:c.133A>G	ENSP00000491608.1:n.133A>G
ENST00000367057.7:c.1683A>G	ENSP00000356024.3:p.Glu561=
ENST00000367058.7:c.1683A>G	ENSP00000356025.3:p.Glu561=
ENST00000367059.3:c.1683A>G	ENSP00000356026.3:p.Glu561=
NM_001006658.2:c.1683A>G , LRG_348t1:c.1683A>G	NP_001006659.1:p.Glu561=
NM_001877.4:c.1683A>G	NP_001868.2:p.Glu561=
XM_011509206.1:c.1314A>G	XP_011507508.1:p.Glu438=
XM_011509206.3:c.1314A>G	XP_011507508.1:p.Glu438=
NM_001006658.3:c.1683A>G MANE Select	NP_001006659.1:p.Glu561=
NM_001877.5:c.1683A>G	NP_001868.2:p.Glu561=