Canonical Allele Identifier: CA47693306

Gene:

Linked Data

• dbSNP Id: rs1013119267
• gnomAD v3: 2-52722327-A-T
• gnomAD v4: 2-52722327-A-T
• MyVariant Identifiers: chr2:g.52949465A>T (hg19) ; chr2:g.52722327A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.52722327A>T , CM000664.2:g.52722327A>T	GRCh38
NC_000002.11:g.52949465A>T , CM000664.1:g.52949465A>T	GRCh37
NC_000002.10:g.52802969A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002959384.1:n.930T>A