Canonical Allele Identifier: CA1866667774
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852364T= , CM000671.2:g.97852364T= GRCh38
NC_000009.11:g.100614646T= , CM000671.1:g.100614646T= GRCh37
NC_000009.10:g.99654467T= NCBI36
NG_011979.1:g.4110T=

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+512A=
XR_930159.1:n.218+512A=
XR_930160.1:n.218+512A=
XR_930161.1:n.218+512A=
NR_147055.1:n.165+552A=