Canonical Allele Identifier: CA762732243
Gene:

Linked Data

dbSNP Id: rs1329857053
gnomAD v3: 2-195006897-C-T
gnomAD v4: 2-195006897-C-T
MyVariant Identifiers: chr2:g.195871621C>T (hg19) chr2:g.195006897C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.195006897C>T , CM000664.2:g.195006897C>T GRCh38
NC_000002.11:g.195871621C>T , CM000664.1:g.195871621C>T GRCh37
NC_000002.10:g.195579866C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001739836.1:n.553+52538G>A
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