Canonical Allele Identifier: CA47693384
Gene:

Linked Data

dbSNP Id: rs367556092
gnomAD v2: 2-52949671-C-T
gnomAD v3: 2-52722533-C-T
gnomAD v4: 2-52722533-C-T
MyVariant Identifiers: chr2:g.52949671C>T (hg19) chr2:g.52722533C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.52722533C>T , CM000664.2:g.52722533C>T GRCh38
NC_000002.11:g.52949671C>T , CM000664.1:g.52949671C>T GRCh37
NC_000002.10:g.52803175C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002959384.1:n.724G>A
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