Canonical Allele Identifier: CA1368791

Gene: CR2

Linked Data

• ClinVar Variation Id: 449008
• ClinVar RCV Id: RCV000658542 ; RCV001079221
• dbSNP Id: rs143614333
• ExAC: 1:207646222 G / A
• gnomAD v2: 1-207646222-G-A
• gnomAD v3: 1-207472877-G-A
• gnomAD v4: 1-207472877-G-A
• MyVariant Identifiers: chr1:g.207646222G>A (hg19) ; chr1:g.207472877G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000699620.1:c.1307G>A	ENSP00000514480.1:p.Gly436Glu
ENST00000699621.1:c.1296G>A
ENST00000367057.8:c.1676G>A MANE Select	ENSP00000356024.3:p.Gly559Glu
ENST00000640301.1:c.126G>A	ENSP00000491608.1:n.126G>A
ENST00000367057.7:c.1676G>A	ENSP00000356024.3:p.Gly559Glu
ENST00000367058.7:c.1676G>A	ENSP00000356025.3:p.Gly559Glu
ENST00000367059.3:c.1676G>A	ENSP00000356026.3:p.Gly559Glu
NM_001006658.2:c.1676G>A , LRG_348t1:c.1676G>A	NP_001006659.1:p.Gly559Glu
NM_001877.4:c.1676G>A	NP_001868.2:p.Gly559Glu
XM_011509206.1:c.1307G>A	XP_011507508.1:p.Gly436Glu
XM_011509206.3:c.1307G>A	XP_011507508.1:p.Gly436Glu
NM_001006658.3:c.1676G>A MANE Select	NP_001006659.1:p.Gly559Glu
NM_001877.5:c.1676G>A	NP_001868.2:p.Gly559Glu