Canonical Allele Identifier: CA11067650
Gene:

Linked Data

dbSNP Id: rs1349882
gnomAD v2: 2-52949318-G-T
gnomAD v3: 2-52722180-G-T
gnomAD v4: 2-52722180-G-T
MyVariant Identifiers: chr2:g.52949318G>T (hg19) chr2:g.52722180G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.52722180G>T , CM000664.2:g.52722180G>T GRCh38
NC_000002.11:g.52949318G>T , CM000664.1:g.52949318G>T GRCh37
NC_000002.10:g.52802822G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002959384.1:n.1077C>A
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