Canonical Allele Identifier: CA869002840
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97787746T>A , CM000671.2:g.97787746T>A GRCh38
NC_000009.11:g.100550028T>A , CM000671.1:g.100550028T>A GRCh37
NC_000009.10:g.99589849T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+22149A>T
XR_930162.1:n.431T>A
NR_147055.1:n.777+16505A>T