Canonical Allele Identifier: CA535800180
Gene:

Linked Data

dbSNP Id: rs1340239998
gnomAD v2: 2-123641510-A-G
gnomAD v3: 2-122883934-A-G
gnomAD v4: 2-122883934-A-G
MyVariant Identifiers: chr2:g.123641510A>G (hg19) chr2:g.122883934A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122883934A>G , CM000664.2:g.122883934A>G GRCh38
NC_000002.11:g.123641510A>G , CM000664.1:g.123641510A>G GRCh37
NC_000002.10:g.123357980A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923292.1:n.1125-1008A>G
XR_001739692.1:n.1451-1008A>G
XR_923292.2:n.1358-1008A>G
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