Canonical Allele Identifier: CA2785233578
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851937C>G , CM000671.2:g.97851937C>G GRCh38
NC_000009.11:g.100614219C>G , CM000671.1:g.100614219C>G GRCh37
NC_000009.10:g.99654040C>G NCBI36
NG_011979.1:g.3683C>G

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+939G>C
XR_930159.1:n.218+939G>C
XR_930160.1:n.218+939G>C
XR_930161.1:n.218+939G>C
NR_147055.1:n.165+979G>C