Canonical Allele Identifier: CA1368319

Gene: CR2

Linked Data

• dbSNP Id: rs761620536
• ExAC: 1:207627714 A / G
• gnomAD v2: 1-207627714-A-G
• gnomAD v4: 1-207454369-A-G
• MyVariant Identifiers: chr1:g.207627714A>G (hg19) ; chr1:g.207454369A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207454369A>G , CM000663.2:g.207454369A>G	GRCh38
NC_000001.10:g.207627714A>G , CM000663.1:g.207627714A>G	GRCh37
NC_000001.9:g.205694337A>G	NCBI36
NG_013006.1:g.5070A>G , LRG_348:g.5070A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699620.1:c.-492A>G	ENSP00000514480.1:n.-492A>G
ENST00000699640.1:c.-385+1274A>G	ENSP00000514493.1:n.-385+1274A>G
ENST00000367057.8:c.-50A>G MANE Select	ENSP00000356024.3:n.-50A>G
ENST00000367057.7:c.-50A>G	ENSP00000356024.3:n.-50A>G
ENST00000367058.7:c.-50A>G	ENSP00000356025.3:n.-50A>G
ENST00000367059.3:c.-50A>G	ENSP00000356026.3:n.-50A>G
NM_001006658.2:c.-50A>G , LRG_348t1:c.-50A>G	NP_001006659.1:n.-50A>G
NM_001877.4:c.-50A>G	NP_001868.2:n.-50A>G
NM_001006658.3:c.-50A>G MANE Select	NP_001006659.1:n.-50A>G
NM_001877.5:c.-50A>G	NP_001868.2:n.-50A>G