Canonical Allele Identifier: CA64382875

Gene:

Linked Data

• dbSNP Id: rs931750317
• gnomAD v3: 2-200033127-G-A
• gnomAD v4: 2-200033127-G-A
• MyVariant Identifiers: chr2:g.200897850G>A (hg19) ; chr2:g.200033127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.200033127G>A , CM000664.2:g.200033127G>A	GRCh38
NC_000002.11:g.200897850G>A , CM000664.1:g.200897850G>A	GRCh37
NC_000002.10:g.200606095G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_923778.1:n.178-22231C>T