Canonical Allele Identifier: CA894254169

Gene:

Linked Data

• dbSNP Id: rs1440145302
• gnomAD v3: 2-88016111-T-C
• gnomAD v4: 2-88016111-T-C
• MyVariant Identifiers: chr2:g.88315630T>C (hg19) ; chr2:g.88016111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016111T>C , CM000664.2:g.88016111T>C	GRCh38
NC_000002.11:g.88315630T>C , CM000664.1:g.88315630T>C	GRCh37
NC_000002.10:g.88096745T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_940335.3:n.456T>C
XR_940336.3:n.456T>C