Canonical Allele Identifier: CA43254721

Gene:

Linked Data

• dbSNP Id: rs545061015
• gnomAD v3: 2-16458129-C-G
• gnomAD v4: 2-16458129-C-G
• MyVariant Identifiers: chr2:g.16639397C>G (hg19) ; chr2:g.16458129C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.16458129C>G , CM000664.2:g.16458129C>G	GRCh38
NC_000002.11:g.16639397C>G , CM000664.1:g.16639397C>G	GRCh37
NC_000002.10:g.16502878C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939752.1:n.396-3035G>C