Canonical Allele Identifier: CA1866690967
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793818C= , CM000671.2:g.97793818C= GRCh38
NC_000009.11:g.100556100C= , CM000671.1:g.100556100C= GRCh37
NC_000009.10:g.99595921C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16077G=
XR_930162.1:n.6503C=
NR_147055.1:n.777+10433G=