Canonical Allele Identifier: CA64382953

Gene:

Linked Data

• dbSNP Id: rs550162683
• gnomAD v3: 2-200033368-C-G
• gnomAD v4: 2-200033368-C-G
• MyVariant Identifiers: chr2:g.200898091C>G (hg19) ; chr2:g.200033368C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.200033368C>G , CM000664.2:g.200033368C>G	GRCh38
NC_000002.11:g.200898091C>G , CM000664.1:g.200898091C>G	GRCh37
NC_000002.10:g.200606336C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923778.1:n.178-22472G>C