Canonical Allele Identifier: CA1866690937
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793741T= , CM000671.2:g.97793741T= GRCh38
NC_000009.11:g.100556023T= , CM000671.1:g.100556023T= GRCh37
NC_000009.10:g.99595844T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16154A=
XR_930162.1:n.6426T=
NR_147055.1:n.777+10510A=