Canonical Allele Identifier: CA531234612

Gene:

Linked Data

• dbSNP Id: rs1308766163
• gnomAD v2: 2-16639561-T-A
• gnomAD v3: 2-16458293-T-A
• gnomAD v4: 2-16458293-T-A
• MyVariant Identifiers: chr2:g.16639561T>A (hg19) ; chr2:g.16458293T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.16458293T>A , CM000664.2:g.16458293T>A	GRCh38
NC_000002.11:g.16639561T>A , CM000664.1:g.16639561T>A	GRCh37
NC_000002.10:g.16503042T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939752.1:n.396-3199A>T