Canonical Allele Identifier: CA344518827
Gene: CR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207454419A>T , CM000663.2:g.207454419A>T GRCh38
NC_000001.10:g.207627764A>T , CM000663.1:g.207627764A>T GRCh37
NC_000001.9:g.205694387A>T NCBI36
NG_013006.1:g.5120A>T , LRG_348:g.5120A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699620.1:c.-442A>T ENSP00000514480.1:n.-442A>T
ENST00000699640.1:c.-385+1324A>T ENSP00000514493.1:n.-385+1324A>T
ENST00000367057.8:c.1A>T MANE Select ENSP00000356024.3:p.Met1Leu
ENST00000367057.7:c.1A>T ENSP00000356024.3:p.Met1Leu
ENST00000367058.7:c.1A>T ENSP00000356025.3:p.Met1Leu
ENST00000367059.3:c.1A>T ENSP00000356026.3:p.Met1Leu
NM_001006658.2:c.1A>T , LRG_348t1:c.1A>T NP_001006659.1:p.Met1Leu
NM_001877.4:c.1A>T NP_001868.2:p.Met1Leu
NM_001006658.3:c.1A>T MANE Select NP_001006659.1:p.Met1Leu
NM_001877.5:c.1A>T NP_001868.2:p.Met1Leu