Canonical Allele Identifier: CA2785233613
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852160C>T , CM000671.2:g.97852160C>T GRCh38
NC_000009.11:g.100614442C>T , CM000671.1:g.100614442C>T GRCh37
NC_000009.10:g.99654263C>T NCBI36
NG_011979.1:g.3906C>T

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+716G>A
XR_930159.1:n.218+716G>A
XR_930160.1:n.218+716G>A
XR_930161.1:n.218+716G>A
NR_147055.1:n.165+756G>A