Canonical Allele Identifier: CA1369073
Community Standard Title: NM_001006658.3(CR2):c.2836G>A (p.Val946Met)
Gene: CR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207476353G>A , CM000663.2:g.207476353G>A GRCh38
NC_000001.10:g.207649698G>A , CM000663.1:g.207649698G>A GRCh37
NC_000001.9:g.205716321G>A NCBI36
NG_013006.1:g.27054G>A , LRG_348:g.27054G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001006658.3:c.2836G>A MANE Select NP_001006659.1:p.Val946Met
ENST00000367057.8:c.2836G>A MANE Select ENSP00000356024.3:p.Val946Met
NM_001006658.2:c.2836G>A , LRG_348t1:c.2836G>A NP_001006659.1:p.Val946Met
NM_001877.4:c.2659G>A NP_001868.2:p.Val887Met
NM_001877.5:c.2659G>A NP_001868.2:p.Val887Met
ENST00000367057.7:c.2836G>A ENSP00000356024.3:p.Val946Met
ENST00000367058.7:c.2659G>A ENSP00000356025.3:p.Val887Met
ENST00000367059.3:c.2539+1137G>A ENSP00000356026.3:n.2539+1137G>A
ENST00000699620.1:c.2290G>A ENSP00000514480.1:p.Val764Met
ENST00000699621.1:c.2279G>A
XM_011509206.1:c.2467G>A XP_011507508.1:p.Val823Met
XM_011509206.3:c.2467G>A XP_011507508.1:p.Val823Met