Canonical Allele Identifier: CA730645939

Gene: CR2

Linked Data

• dbSNP Id: rs1469716594
• gnomAD v3: 1-207454377-G-C
• gnomAD v4: 1-207454377-G-C
• MyVariant Identifiers: chr1:g.207627722G>C (hg19) ; chr1:g.207454377G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207454377G>C , CM000663.2:g.207454377G>C	GRCh38
NC_000001.10:g.207627722G>C , CM000663.1:g.207627722G>C	GRCh37
NC_000001.9:g.205694345G>C	NCBI36
NG_013006.1:g.5078G>C , LRG_348:g.5078G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699620.1:c.-484G>C	ENSP00000514480.1:n.-484G>C
ENST00000699640.1:c.-385+1282G>C	ENSP00000514493.1:n.-385+1282G>C
ENST00000367057.8:c.-42G>C MANE Select	ENSP00000356024.3:n.-42G>C
ENST00000367057.7:c.-42G>C	ENSP00000356024.3:n.-42G>C
ENST00000367058.7:c.-42G>C	ENSP00000356025.3:n.-42G>C
ENST00000367059.3:c.-42G>C	ENSP00000356026.3:n.-42G>C
NM_001006658.2:c.-42G>C , LRG_348t1:c.-42G>C	NP_001006659.1:n.-42G>C
NM_001877.4:c.-42G>C	NP_001868.2:n.-42G>C
NM_001006658.3:c.-42G>C MANE Select	NP_001006659.1:n.-42G>C
NM_001877.5:c.-42G>C	NP_001868.2:n.-42G>C