Canonical Allele Identifier: CA2785233492

Gene: PTCSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851726A>G , CM000671.2:g.97851726A>G	GRCh38
NC_000009.11:g.100614008A>G , CM000671.1:g.100614008A>G	GRCh37
NC_000009.10:g.99653829A>G	NCBI36
NG_011979.1:g.3472A>G

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+1150T>C
XR_930159.1:n.218+1150T>C
XR_930160.1:n.218+1150T>C
XR_930161.1:n.218+1150T>C
NR_147055.1:n.165+1190T>C