Canonical Allele Identifier: CA36637823

Gene: CR2

Linked Data

• dbSNP Id: rs912273717
• gnomAD v3: 1-207454367-G-A
• gnomAD v4: 1-207454367-G-A
• MyVariant Identifiers: chr1:g.207627712G>A (hg19) ; chr1:g.207454367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207454367G>A , CM000663.2:g.207454367G>A	GRCh38
NC_000001.10:g.207627712G>A , CM000663.1:g.207627712G>A	GRCh37
NC_000001.9:g.205694335G>A	NCBI36
NG_013006.1:g.5068G>A , LRG_348:g.5068G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699620.1:c.-494G>A	ENSP00000514480.1:n.-494G>A
ENST00000699640.1:c.-385+1272G>A	ENSP00000514493.1:n.-385+1272G>A
ENST00000367057.8:c.-52G>A MANE Select	ENSP00000356024.3:n.-52G>A
ENST00000367057.7:c.-52G>A	ENSP00000356024.3:n.-52G>A
ENST00000367058.7:c.-52G>A	ENSP00000356025.3:n.-52G>A
ENST00000367059.3:c.-52G>A	ENSP00000356026.3:n.-52G>A
NM_001006658.2:c.-52G>A , LRG_348t1:c.-52G>A	NP_001006659.1:n.-52G>A
NM_001877.4:c.-52G>A	NP_001868.2:n.-52G>A
NM_001006658.3:c.-52G>A MANE Select	NP_001006659.1:n.-52G>A
NM_001877.5:c.-52G>A	NP_001868.2:n.-52G>A