Canonical Allele Identifier: CA36637863

Gene: CR2

Linked Data

• dbSNP Id: rs919355144
• gnomAD v4: 1-207454389-G-A
• MyVariant Identifiers: chr1:g.207627734G>A (hg19) ; chr1:g.207454389G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207454389G>A , CM000663.2:g.207454389G>A	GRCh38
NC_000001.10:g.207627734G>A , CM000663.1:g.207627734G>A	GRCh37
NC_000001.9:g.205694357G>A	NCBI36
NG_013006.1:g.5090G>A , LRG_348:g.5090G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699620.1:c.-472G>A	ENSP00000514480.1:n.-472G>A
ENST00000699640.1:c.-385+1294G>A	ENSP00000514493.1:n.-385+1294G>A
ENST00000367057.8:c.-30G>A MANE Select	ENSP00000356024.3:n.-30G>A
ENST00000367057.7:c.-30G>A	ENSP00000356024.3:n.-30G>A
ENST00000367058.7:c.-30G>A	ENSP00000356025.3:n.-30G>A
ENST00000367059.3:c.-30G>A	ENSP00000356026.3:n.-30G>A
NM_001006658.2:c.-30G>A , LRG_348t1:c.-30G>A	NP_001006659.1:n.-30G>A
NM_001877.4:c.-30G>A	NP_001868.2:n.-30G>A
NM_001006658.3:c.-30G>A MANE Select	NP_001006659.1:n.-30G>A
NM_001877.5:c.-30G>A	NP_001868.2:n.-30G>A