Canonical Allele Identifier: CA47693277

Gene:

Linked Data

• dbSNP Id: rs117982101
• gnomAD v2: 2-52949330-G-A
• gnomAD v3: 2-52722192-G-A
• gnomAD v4: 2-52722192-G-A
• MyVariant Identifiers: chr2:g.52949330G>A (hg19) ; chr2:g.52722192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.52722192G>A , CM000664.2:g.52722192G>A	GRCh38
NC_000002.11:g.52949330G>A , CM000664.1:g.52949330G>A	GRCh37
NC_000002.10:g.52802834G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_002959384.1:n.1065C>T