Canonical Allele Identifier: CA43254730

Gene:

Linked Data

• dbSNP Id: rs575382394
• gnomAD v3: 2-16458182-C-A
• gnomAD v4: 2-16458182-C-A
• MyVariant Identifiers: chr2:g.16639450C>A (hg19) ; chr2:g.16458182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.16458182C>A , CM000664.2:g.16458182C>A	GRCh38
NC_000002.11:g.16639450C>A , CM000664.1:g.16639450C>A	GRCh37
NC_000002.10:g.16502931C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939752.1:n.396-3088G>T