Canonical Allele Identifier: CA2785233623

Gene: PTCSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97852357C>G , CM000671.2:g.97852357C>G	GRCh38
NC_000009.11:g.100614639C>G , CM000671.1:g.100614639C>G	GRCh37
NC_000009.10:g.99654460C>G	NCBI36
NG_011979.1:g.4103C>G

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+519G>C
XR_930159.1:n.218+519G>C
XR_930160.1:n.218+519G>C
XR_930161.1:n.218+519G>C
NR_147055.1:n.165+559G>C