Canonical Allele Identifier: CA344518825

Gene: CR2

Linked Data

• dbSNP Id: rs1308834843
• gnomAD v3: 1-207454419-A-C
• gnomAD v4: 1-207454419-A-C
• MyVariant Identifiers: chr1:g.207627764A>C (hg19) ; chr1:g.207454419A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207454419A>C , CM000663.2:g.207454419A>C	GRCh38
NC_000001.10:g.207627764A>C , CM000663.1:g.207627764A>C	GRCh37
NC_000001.9:g.205694387A>C	NCBI36
NG_013006.1:g.5120A>C , LRG_348:g.5120A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699620.1:c.-442A>C	ENSP00000514480.1:n.-442A>C
ENST00000699640.1:c.-385+1324A>C	ENSP00000514493.1:n.-385+1324A>C
ENST00000367057.8:c.1A>C MANE Select	ENSP00000356024.3:p.Met1Leu
ENST00000367057.7:c.1A>C	ENSP00000356024.3:p.Met1Leu
ENST00000367058.7:c.1A>C	ENSP00000356025.3:p.Met1Leu
ENST00000367059.3:c.1A>C	ENSP00000356026.3:p.Met1Leu
NM_001006658.2:c.1A>C , LRG_348t1:c.1A>C	NP_001006659.1:p.Met1Leu
NM_001877.4:c.1A>C	NP_001868.2:p.Met1Leu
NM_001006658.3:c.1A>C MANE Select	NP_001006659.1:p.Met1Leu
NM_001877.5:c.1A>C	NP_001868.2:p.Met1Leu