Canonical Allele Identifier: CA197059143
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs982375155

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852642C>A , CM000671.2:g.97852642C>A GRCh38
NC_000009.11:g.100614924C>A , CM000671.1:g.100614924C>A GRCh37
NC_000009.10:g.99654745C>A NCBI36
NG_011979.1:g.4388C>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+234G>T
XR_930159.1:n.218+234G>T
XR_930160.1:n.218+234G>T
XR_930161.1:n.218+234G>T
NR_147055.1:n.165+274G>T