Canonical Allele Identifier: CA43254745
Gene:

Linked Data

dbSNP Id: rs1346751
gnomAD v2: 2-16639566-C-T
gnomAD v3: 2-16458298-C-T
gnomAD v4: 2-16458298-C-T
MyVariant Identifiers: chr2:g.16639566C>T (hg19) chr2:g.16458298C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.16458298C>T , CM000664.2:g.16458298C>T GRCh38
NC_000002.11:g.16639566C>T , CM000664.1:g.16639566C>T GRCh37
NC_000002.10:g.16503047C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939752.1:n.396-3204G>A
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