Canonical Allele Identifier: CA64382947

Gene:

Linked Data

• dbSNP Id: rs564609430
• gnomAD v2: 2-200898070-G-A
• gnomAD v3: 2-200033347-G-A
• gnomAD v4: 2-200033347-G-A
• MyVariant Identifiers: chr2:g.200898070G>A (hg19) ; chr2:g.200033347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.200033347G>A , CM000664.2:g.200033347G>A	GRCh38
NC_000002.11:g.200898070G>A , CM000664.1:g.200898070G>A	GRCh37
NC_000002.10:g.200606315G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923778.1:n.178-22451C>T