Canonical Allele Identifier: CA1866667770
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830599375
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852355G>A , CM000671.2:g.97852355G>A GRCh38
NC_000009.11:g.100614637G>A , CM000671.1:g.100614637G>A GRCh37
NC_000009.10:g.99654458G>A NCBI36
NG_011979.1:g.4101G>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+521C>T
XR_930159.1:n.218+521C>T
XR_930160.1:n.218+521C>T
XR_930161.1:n.218+521C>T
NR_147055.1:n.165+561C>T
Search 100 bp 5'
Search 100 bp 3'