Canonical Allele Identifier: CA730645818

Gene: CR2

Linked Data

• dbSNP Id: rs1306388147
• gnomAD v4: 1-207454196-C-G
• MyVariant Identifiers: chr1:g.207627541C>G (hg19) ; chr1:g.207454196C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207454196C>G , CM000663.2:g.207454196C>G	GRCh38
NC_000001.10:g.207627541C>G , CM000663.1:g.207627541C>G	GRCh37
NC_000001.9:g.205694164C>G	NCBI36
NG_013006.1:g.4897C>G , LRG_348:g.4897C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699640.1:c.-385+1101C>G	ENSP00000514493.1:n.-385+1101C>G