Canonical Allele Identifier: CA344533922

Gene: CR2

Linked Data

• ClinVar Variation Id: 939357
• ClinVar RCV Id: RCV001208745
• dbSNP Id: rs1658322230
• gnomAD v4: 1-207472879-C-A
• MyVariant Identifiers: chr1:g.207646224C>A (hg19) ; chr1:g.207472879C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207472879C>A , CM000663.2:g.207472879C>A	GRCh38
NC_000001.10:g.207646224C>A , CM000663.1:g.207646224C>A	GRCh37
NC_000001.9:g.205712847C>A	NCBI36
NG_013006.1:g.23580C>A , LRG_348:g.23580C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699620.1:c.1309C>A	ENSP00000514480.1:p.Pro437Thr
ENST00000699621.1:c.1298C>A
ENST00000367057.8:c.1678C>A MANE Select	ENSP00000356024.3:p.Pro560Thr
ENST00000640301.1:c.128C>A	ENSP00000491608.1:n.128C>A
ENST00000367057.7:c.1678C>A	ENSP00000356024.3:p.Pro560Thr
ENST00000367058.7:c.1678C>A	ENSP00000356025.3:p.Pro560Thr
ENST00000367059.3:c.1678C>A	ENSP00000356026.3:p.Pro560Thr
NM_001006658.2:c.1678C>A , LRG_348t1:c.1678C>A	NP_001006659.1:p.Pro560Thr
NM_001877.4:c.1678C>A	NP_001868.2:p.Pro560Thr
XM_011509206.1:c.1309C>A	XP_011507508.1:p.Pro437Thr
XM_011509206.3:c.1309C>A	XP_011507508.1:p.Pro437Thr
NM_001006658.3:c.1678C>A MANE Select	NP_001006659.1:p.Pro560Thr
NM_001877.5:c.1678C>A	NP_001868.2:p.Pro560Thr