Canonical Allele Identifier: CA1866690990
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793882T= , CM000671.2:g.97793882T= GRCh38
NC_000009.11:g.100556164T= , CM000671.1:g.100556164T= GRCh37
NC_000009.10:g.99595985T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16013A=
NR_147055.1:n.777+10369A=