Canonical Allele Identifier: CA1866666604
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851662G= , CM000671.2:g.97851662G= GRCh38
NC_000009.11:g.100613944G= , CM000671.1:g.100613944G= GRCh37
NC_000009.10:g.99653765G= NCBI36
NG_011979.1:g.3408G=

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1214C=
XR_930159.1:n.218+1214C=
XR_930160.1:n.218+1214C=
XR_930161.1:n.218+1214C=
NR_147055.1:n.165+1254C=