Canonical Allele Identifier: CA43254740

Gene:

Linked Data

• dbSNP Id: rs189829290
• gnomAD v2: 2-16639539-C-T
• gnomAD v3: 2-16458271-C-T
• gnomAD v4: 2-16458271-C-T
• MyVariant Identifiers: chr2:g.16639539C>T (hg19) ; chr2:g.16458271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.16458271C>T , CM000664.2:g.16458271C>T	GRCh38
NC_000002.11:g.16639539C>T , CM000664.1:g.16639539C>T	GRCh37
NC_000002.10:g.16503020C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939752.1:n.396-3177G>A