Canonical Allele Identifier: CA1866667784
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1587807371

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852370T>G , CM000671.2:g.97852370T>G GRCh38
NC_000009.11:g.100614652T>G , CM000671.1:g.100614652T>G GRCh37
NC_000009.10:g.99654473T>G NCBI36
NG_011979.1:g.4116T>G

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+506A>C
XR_930159.1:n.218+506A>C
XR_930160.1:n.218+506A>C
XR_930161.1:n.218+506A>C
NR_147055.1:n.165+546A>C