Canonical Allele Identifier: CA1866668170
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852616G= , CM000671.2:g.97852616G= GRCh38
NC_000009.11:g.100614898G= , CM000671.1:g.100614898G= GRCh37
NC_000009.10:g.99654719G= NCBI36
NG_011979.1:g.4362G=

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+260C=
XR_930159.1:n.218+260C=
XR_930160.1:n.218+260C=
XR_930161.1:n.218+260C=
NR_147055.1:n.165+300C=