Canonical Allele Identifier: CA1368456
Gene: CR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207468605C>T , CM000663.2:g.207468605C>T GRCh38
NC_000001.10:g.207641950C>T , CM000663.1:g.207641950C>T GRCh37
NC_000001.9:g.205708573C>T NCBI36
NG_013006.1:g.19306C>T , LRG_348:g.19306C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699620.1:c.155C>T ENSP00000514480.1:p.Pro52Leu
ENST00000699621.1:c.255C>T
ENST00000367057.8:c.524C>T MANE Select ENSP00000356024.3:p.Pro175Leu
ENST00000367057.7:c.524C>T ENSP00000356024.3:p.Pro175Leu
ENST00000367058.7:c.524C>T ENSP00000356025.3:p.Pro175Leu
ENST00000367059.3:c.524C>T ENSP00000356026.3:p.Pro175Leu
ENST00000485707.1:n.300C>T
NM_001006658.2:c.524C>T , LRG_348t1:c.524C>T NP_001006659.1:p.Pro175Leu
NM_001877.4:c.524C>T NP_001868.2:p.Pro175Leu
XM_011509206.1:c.155C>T XP_011507508.1:p.Pro52Leu
XM_011509206.3:c.155C>T XP_011507508.1:p.Pro52Leu
NM_001006658.3:c.524C>T MANE Select NP_001006659.1:p.Pro175Leu
NM_001877.5:c.524C>T NP_001868.2:p.Pro175Leu