Canonical Allele Identifier: CA1866691024
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793939A= , CM000671.2:g.97793939A= GRCh38
NC_000009.11:g.100556221A= , CM000671.1:g.100556221A= GRCh37
NC_000009.10:g.99596042A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+15956T=
NR_147055.1:n.777+10312T=