Canonical Allele Identifier: CA1866690948
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793776T= , CM000671.2:g.97793776T= GRCh38
NC_000009.11:g.100556058T= , CM000671.1:g.100556058T= GRCh37
NC_000009.10:g.99595879T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16119A=
XR_930162.1:n.6461T=
NR_147055.1:n.777+10475A=