Canonical Allele Identifier: CA1866668143
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852600C= , CM000671.2:g.97852600C= GRCh38
NC_000009.11:g.100614882C= , CM000671.1:g.100614882C= GRCh37
NC_000009.10:g.99654703C= NCBI36
NG_011979.1:g.4346C=

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+276G=
XR_930159.1:n.218+276G=
XR_930160.1:n.218+276G=
XR_930161.1:n.218+276G=
NR_147055.1:n.165+316G=