Canonical Allele Identifier: CA1866690927
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830043753

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793722G>A , CM000671.2:g.97793722G>A GRCh38
NC_000009.11:g.100556004G>A , CM000671.1:g.100556004G>A GRCh37
NC_000009.10:g.99595825G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16173C>T
XR_930162.1:n.6407G>A
NR_147055.1:n.777+10529C>T