Canonical Allele Identifier: CA129908

Gene: CR2

Linked Data

• ClinVar Variation Id: 35454
• ClinVar RCV Id: RCV000029133 ; RCV001093108
• dbSNP Id: rs398122864
• gnomAD v4: 1-207470103-G-C
• MyVariant Identifiers: chr1:g.207643448G>C (hg19) ; chr1:g.207470103G>C (hg38)
• PubMed: PMID:22035880

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207470103G>C , CM000663.2:g.207470103G>C	GRCh38
NC_000001.10:g.207643448G>C , CM000663.1:g.207643448G>C	GRCh37
NC_000001.9:g.205710071G>C	NCBI36
NG_013006.1:g.20804G>C , LRG_348:g.20804G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699620.1:c.856+1G>C	ENSP00000514480.1:n.856+1G>C
ENST00000699621.1:c.845+1G>C
ENST00000367057.8:c.1225+1G>C MANE Select	ENSP00000356024.3:n.1225+1G>C
ENST00000367057.7:c.1225+1G>C	ENSP00000356024.3:n.1225+1G>C
ENST00000367058.7:c.1225+1G>C	ENSP00000356025.3:n.1225+1G>C
ENST00000367059.3:c.1225+1G>C	ENSP00000356026.3:n.1225+1G>C
NM_001006658.2:c.1225+1G>C , LRG_348t1:c.1225+1G>C	NP_001006659.1:n.1225+1G>C
NM_001877.4:c.1225+1G>C	NP_001868.2:n.1225+1G>C
XM_011509206.1:c.856+1G>C	XP_011507508.1:n.856+1G>C
XM_011509206.3:c.856+1G>C	XP_011507508.1:n.856+1G>C
NM_001006658.3:c.1225+1G>C MANE Select	NP_001006659.1:n.1225+1G>C
NM_001877.5:c.1225+1G>C	NP_001868.2:n.1225+1G>C