Canonical Allele Identifier: CA2741039277
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793851T>G , CM000671.2:g.97793851T>G GRCh38
NC_000009.11:g.100556133T>G , CM000671.1:g.100556133T>G GRCh37
NC_000009.10:g.99595954T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16044A>C
XR_930162.1:n.6536T>G
NR_147055.1:n.777+10400A>C