Canonical Allele Identifier: CA64109702
Gene:

Linked Data

dbSNP Id: rs16830366
gnomAD v2: 2-199585556-C-T
gnomAD v3: 2-198720832-C-T
gnomAD v4: 2-198720832-C-T
MyVariant Identifiers: chr2:g.199585556C>T (hg19) chr2:g.198720832C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.198720832C>T , CM000664.2:g.198720832C>T GRCh38
NC_000002.11:g.199585556C>T , CM000664.1:g.199585556C>T GRCh37
NC_000002.10:g.199293801C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_923758.1:n.72+51427G>A
XR_923759.1:n.72+51427G>A
XR_923760.1:n.72+51427G>A
XR_923759.2:n.72+51427G>A
XR_923760.2:n.72+51427G>A
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