Canonical Allele Identifier: CA47693316
Gene:

Linked Data

dbSNP Id: rs972231117
gnomAD v2: 2-52949480-T-G
gnomAD v3: 2-52722342-T-G
gnomAD v4: 2-52722342-T-G
MyVariant Identifiers: chr2:g.52949480T>G (hg19) chr2:g.52722342T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.52722342T>G , CM000664.2:g.52722342T>G GRCh38
NC_000002.11:g.52949480T>G , CM000664.1:g.52949480T>G GRCh37
NC_000002.10:g.52802984T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002959384.1:n.915A>C
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