Canonical Allele Identifier: CA427349535
Gene:

Linked Data

dbSNP Id: rs537228376
gnomAD v3: 2-88016438-T-C
gnomAD v4: 2-88016438-T-C
MyVariant Identifiers: chr2:g.88315957T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016438T>C , CM000664.2:g.88016438T>C GRCh38
NC_000002.11:g.88315957T>C , CM000664.1:g.88315957T>C GRCh37
NC_000002.10:g.88097072T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.783T>C
XR_940336.3:n.783T>C