Canonical Allele Identifier: CA531234608

Gene:

Linked Data

• dbSNP Id: rs1167099942
• gnomAD v2: 2-16639531-C-T
• gnomAD v3: 2-16458263-C-T
• gnomAD v4: 2-16458263-C-T
• MyVariant Identifiers: chr2:g.16639531C>T (hg19) ; chr2:g.16458263C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.16458263C>T , CM000664.2:g.16458263C>T	GRCh38
NC_000002.11:g.16639531C>T , CM000664.1:g.16639531C>T	GRCh37
NC_000002.10:g.16503012C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939752.1:n.396-3169G>A