Canonical Allele Identifier: CA1866691000
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793892C= , CM000671.2:g.97793892C= GRCh38
NC_000009.11:g.100556174C= , CM000671.1:g.100556174C= GRCh37
NC_000009.10:g.99595995C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16003G=
NR_147055.1:n.777+10359G=