Canonical Allele Identifier: CA1368864
Gene: CR2 HGNC NCBI
COSMIC:
COSM3746751 (not active)
MyVariant.info:
GRCh38 chr1:g.207473578G>A
GRCh37 chr1:g.207646923G>A
Revel Score:
ENST00000367057 (MANE Select) 0.248
gnomAD v2:
1:207646923 G / A
gnomAD v3:
1:207473578 G / A
gnomAD v4:
chr1-207473578-G-A
Joint Max Group AF 0.37439634 (AFR)
Genomes Max Group AF 0.37236702 (AFR)
Exomes Max Group AF 0.3735177 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207473578G>A , CM000663.2:g.207473578G>A GRCh38
NC_000001.10:g.207646923G>A , CM000663.1:g.207646923G>A GRCh37
NC_000001.9:g.205713546G>A NCBI36
NG_013006.1:g.24279G>A , LRG_348:g.24279G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699620.1:c.1610-223G>A ENSP00000514480.1:n.1610-223G>A
ENST00000699621.1:c.1599-223G>A
ENST00000367057.8:c.2012G>A MANE Select ENSP00000356024.3:p.Arg671His
ENST00000367057.7:c.2012G>A ENSP00000356024.3:p.Arg671His
ENST00000367058.7:c.1979-223G>A ENSP00000356025.3:n.1979-223G>A
ENST00000367059.3:c.1979-223G>A ENSP00000356026.3:n.1979-223G>A
NM_001006658.2:c.2012G>A , LRG_348t1:c.2012G>A NP_001006659.1:p.Arg671His
NM_001877.4:c.1979-223G>A NP_001868.2:n.1979-223G>A
XM_011509206.1:c.1643G>A XP_011507508.1:p.Arg548His
XM_011509206.3:c.1643G>A XP_011507508.1:p.Arg548His
NM_001006658.3:c.2012G>A MANE Select NP_001006659.1:p.Arg671His
NM_001877.5:c.1979-223G>A NP_001868.2:n.1979-223G>A
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