Canonical Allele Identifier: CA769999917
Gene:

Linked Data

dbSNP Id: rs1180963170
gnomAD v3: 2-52722280-T-G
gnomAD v4: 2-52722280-T-G
MyVariant Identifiers: chr2:g.52949418T>G (hg19) chr2:g.52722280T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.52722280T>G , CM000664.2:g.52722280T>G GRCh38
NC_000002.11:g.52949418T>G , CM000664.1:g.52949418T>G GRCh37
NC_000002.10:g.52802922T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002959384.1:n.977A>C
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