Canonical Allele Identifier: CA1368777
Gene: CR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207472818C>T , CM000663.2:g.207472818C>T GRCh38
NC_000001.10:g.207646163C>T , CM000663.1:g.207646163C>T GRCh37
NC_000001.9:g.205712786C>T NCBI36
NG_013006.1:g.23519C>T , LRG_348:g.23519C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699620.1:c.1248C>T ENSP00000514480.1:p.Thr416=
ENST00000699621.1:c.1237C>T
ENST00000367057.8:c.1617C>T MANE Select ENSP00000356024.3:p.Thr539=
ENST00000640301.1:c.67C>T ENSP00000491608.1:p.Arg23Trp
ENST00000367057.7:c.1617C>T ENSP00000356024.3:p.Thr539=
ENST00000367058.7:c.1617C>T ENSP00000356025.3:p.Thr539=
ENST00000367059.3:c.1617C>T ENSP00000356026.3:p.Thr539=
NM_001006658.2:c.1617C>T , LRG_348t1:c.1617C>T NP_001006659.1:p.Thr539=
NM_001877.4:c.1617C>T NP_001868.2:p.Thr539=
XM_011509206.1:c.1248C>T XP_011507508.1:p.Thr416=
XM_011509206.3:c.1248C>T XP_011507508.1:p.Thr416=
NM_001006658.3:c.1617C>T MANE Select NP_001006659.1:p.Thr539=
NM_001877.5:c.1617C>T NP_001868.2:p.Thr539=