Canonical Allele Identifier: CA1866667417
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852112T= , CM000671.2:g.97852112T= GRCh38
NC_000009.11:g.100614394T= , CM000671.1:g.100614394T= GRCh37
NC_000009.10:g.99654215T= NCBI36
NG_011979.1:g.3858T=

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+764A=
XR_930159.1:n.218+764A=
XR_930160.1:n.218+764A=
XR_930161.1:n.218+764A=
NR_147055.1:n.165+804A=