Canonical Allele Identifier: CA1866666736
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830590907

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851888C>A , CM000671.2:g.97851888C>A GRCh38
NC_000009.11:g.100614170C>A , CM000671.1:g.100614170C>A GRCh37
NC_000009.10:g.99653991C>A NCBI36
NG_011979.1:g.3634C>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+988G>T
XR_930159.1:n.218+988G>T
XR_930160.1:n.218+988G>T
XR_930161.1:n.218+988G>T
NR_147055.1:n.165+1028G>T