Canonical Allele Identifier: CA869019535
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1183213314

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852581G>A , CM000671.2:g.97852581G>A GRCh38
NC_000009.11:g.100614863G>A , CM000671.1:g.100614863G>A GRCh37
NC_000009.10:g.99654684G>A NCBI36
NG_011979.1:g.4327G>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+295C>T
XR_930159.1:n.218+295C>T
XR_930160.1:n.218+295C>T
XR_930161.1:n.218+295C>T
NR_147055.1:n.165+335C>T