Canonical Allele Identifier: CA2564127387
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851940C>A , CM000671.2:g.97851940C>A GRCh38
NC_000009.11:g.100614222C>A , CM000671.1:g.100614222C>A GRCh37
NC_000009.10:g.99654043C>A NCBI36
NG_011979.1:g.3686C>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+936G>T
XR_930159.1:n.218+936G>T
XR_930160.1:n.218+936G>T
XR_930161.1:n.218+936G>T
NR_147055.1:n.165+976G>T