Canonical Allele Identifier: CA1866667660
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs781743351

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852293G>A , CM000671.2:g.97852293G>A GRCh38
NC_000009.11:g.100614575G>A , CM000671.1:g.100614575G>A GRCh37
NC_000009.10:g.99654396G>A NCBI36
NG_011979.1:g.4039G>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+583C>T
XR_930159.1:n.218+583C>T
XR_930160.1:n.218+583C>T
XR_930161.1:n.218+583C>T
NR_147055.1:n.165+623C>T