Canonical Allele Identifier: CA531234618

Gene:

Linked Data

• dbSNP Id: rs1291523841
• gnomAD v2: 2-16639609-T-C
• gnomAD v3: 2-16458341-T-C
• gnomAD v4: 2-16458341-T-C
• MyVariant Identifiers: chr2:g.16639609T>C (hg19) ; chr2:g.16458341T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.16458341T>C , CM000664.2:g.16458341T>C	GRCh38
NC_000002.11:g.16639609T>C , CM000664.1:g.16639609T>C	GRCh37
NC_000002.10:g.16503090T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939752.1:n.396-3247A>G