Canonical Allele Identifier: CA528606450

Gene: CR2

Linked Data

• dbSNP Id: rs1406464390
• gnomAD v2: 1-207627715-C-T
• gnomAD v4: 1-207454370-C-T
• MyVariant Identifiers: chr1:g.207627715C>T (hg19) ; chr1:g.207454370C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207454370C>T , CM000663.2:g.207454370C>T	GRCh38
NC_000001.10:g.207627715C>T , CM000663.1:g.207627715C>T	GRCh37
NC_000001.9:g.205694338C>T	NCBI36
NG_013006.1:g.5071C>T , LRG_348:g.5071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699620.1:c.-491C>T	ENSP00000514480.1:n.-491C>T
ENST00000699640.1:c.-385+1275C>T	ENSP00000514493.1:n.-385+1275C>T
ENST00000367057.8:c.-49C>T MANE Select	ENSP00000356024.3:n.-49C>T
ENST00000367057.7:c.-49C>T	ENSP00000356024.3:n.-49C>T
ENST00000367058.7:c.-49C>T	ENSP00000356025.3:n.-49C>T
ENST00000367059.3:c.-49C>T	ENSP00000356026.3:n.-49C>T
NM_001006658.2:c.-49C>T , LRG_348t1:c.-49C>T	NP_001006659.1:n.-49C>T
NM_001877.4:c.-49C>T	NP_001868.2:n.-49C>T
NM_001006658.3:c.-49C>T MANE Select	NP_001006659.1:n.-49C>T
NM_001877.5:c.-49C>T	NP_001868.2:n.-49C>T