Canonical Allele Identifier: CA589533046
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1343846297
gnomAD v2: 9-100614593-C-T
gnomAD v3: 9-97852311-C-T
gnomAD v4: 9-97852311-C-T
MyVariant Identifiers: chr9:g.100614593C>T (hg19) chr9:g.97852311C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852311C>T , CM000671.2:g.97852311C>T GRCh38
NC_000009.11:g.100614593C>T , CM000671.1:g.100614593C>T GRCh37
NC_000009.10:g.99654414C>T NCBI36
NG_011979.1:g.4057C>T

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+565G>A
XR_930159.1:n.218+565G>A
XR_930160.1:n.218+565G>A
XR_930161.1:n.218+565G>A
NR_147055.1:n.165+605G>A
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