Canonical Allele Identifier: CA1866666673
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851789C= , CM000671.2:g.97851789C= GRCh38
NC_000009.11:g.100614071C= , CM000671.1:g.100614071C= GRCh37
NC_000009.10:g.99653892C= NCBI36
NG_011979.1:g.3535C=

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1087G=
XR_930159.1:n.218+1087G=
XR_930160.1:n.218+1087G=
XR_930161.1:n.218+1087G=
NR_147055.1:n.165+1127G=