Canonical Allele Identifier: CA1368823

Gene: CR2

Linked Data

• ClinVar Variation Id: 402559
• ClinVar RCV Id: RCV000455065 ; RCV001653784 ; RCV001521613
• dbSNP Id: rs17615
• ExAC: 1:207646462 G / A
• gnomAD v2: 1-207646462-G-A
• gnomAD v3: 1-207473117-G-A
• gnomAD v4: 1-207473117-G-A
• MyVariant Identifiers: chr1:g.207646462G>A (hg19) ; chr1:g.207473117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207473117G>A , CM000663.2:g.207473117G>A	GRCh38
NC_000001.10:g.207646462G>A , CM000663.1:g.207646462G>A	GRCh37
NC_000001.9:g.205713085G>A	NCBI36
NG_013006.1:g.23818G>A , LRG_348:g.23818G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699620.1:c.1547G>A	ENSP00000514480.1:p.Ser516Asn
ENST00000699621.1:c.1536G>A
ENST00000367057.8:c.1916G>A MANE Select	ENSP00000356024.3:p.Ser639Asn
ENST00000367057.7:c.1916G>A	ENSP00000356024.3:p.Ser639Asn
ENST00000367058.7:c.1916G>A	ENSP00000356025.3:p.Ser639Asn
ENST00000367059.3:c.1916G>A	ENSP00000356026.3:p.Ser639Asn
NM_001006658.2:c.1916G>A , LRG_348t1:c.1916G>A	NP_001006659.1:p.Ser639Asn
NM_001877.4:c.1916G>A	NP_001868.2:p.Ser639Asn
XM_011509206.1:c.1547G>A	XP_011507508.1:p.Ser516Asn
XM_011509206.3:c.1547G>A	XP_011507508.1:p.Ser516Asn
NM_001006658.3:c.1916G>A MANE Select	NP_001006659.1:p.Ser639Asn
NM_001877.5:c.1916G>A	NP_001868.2:p.Ser639Asn