Canonical Allele Identifier: CA760016624

Gene:

Linked Data

• dbSNP Id: rs1287280069
• gnomAD v3: 2-16458172-T-C
• gnomAD v4: 2-16458172-T-C
• MyVariant Identifiers: chr2:g.16639440T>C (hg19) ; chr2:g.16458172T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.16458172T>C , CM000664.2:g.16458172T>C	GRCh38
NC_000002.11:g.16639440T>C , CM000664.1:g.16639440T>C	GRCh37
NC_000002.10:g.16502921T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939752.1:n.396-3078A>G