Canonical Allele Identifier: CA427349461
Gene:

Linked Data

dbSNP Id: rs1040111146
gnomAD v3: 2-88016400-T-G
gnomAD v4: 2-88016400-T-G
MyVariant Identifiers: chr2:g.88315919T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016400T>G , CM000664.2:g.88016400T>G GRCh38
NC_000002.11:g.88315919T>G , CM000664.1:g.88315919T>G GRCh37
NC_000002.10:g.88097034T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.745T>G
XR_940336.3:n.745T>G