Canonical Allele Identifier: CA1368858
Gene: CR2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.207473553T>A
GRCh37 chr1:g.207646898T>A
Revel Score:
ENST00000367057 (MANE Select) 0.044
gnomAD v2:
1:207646898 T / A
gnomAD v3:
1:207473553 T / A
gnomAD v4:
chr1-207473553-T-A
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
dbSNP:
4308977
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207473553T>A , CM000663.2:g.207473553T>A GRCh38
NC_000001.10:g.207646898T>A , CM000663.1:g.207646898T>A GRCh37
NC_000001.9:g.205713521T>A NCBI36
NG_013006.1:g.24254T>A , LRG_348:g.24254T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699620.1:c.1610-248T>A ENSP00000514480.1:n.1610-248T>A
ENST00000699621.1:c.1599-248T>A
ENST00000367057.8:c.1987T>A MANE Select ENSP00000356024.3:p.Ser663Thr
ENST00000367057.7:c.1987T>A ENSP00000356024.3:p.Ser663Thr
ENST00000367058.7:c.1979-248T>A ENSP00000356025.3:n.1979-248T>A
ENST00000367059.3:c.1979-248T>A ENSP00000356026.3:n.1979-248T>A
NM_001006658.2:c.1987T>A , LRG_348t1:c.1987T>A NP_001006659.1:p.Ser663Thr
NM_001877.4:c.1979-248T>A NP_001868.2:n.1979-248T>A
XM_011509206.1:c.1618T>A XP_011507508.1:p.Ser540Thr
XM_011509206.3:c.1618T>A XP_011507508.1:p.Ser540Thr
NM_001006658.3:c.1987T>A MANE Select NP_001006659.1:p.Ser663Thr
NM_001877.5:c.1979-248T>A NP_001868.2:n.1979-248T>A
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