Canonical Allele Identifier: CA2720392254

Gene: PTCSC2

Linked Data

• dbSNP Id: rs2131483814

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97852187T>C , CM000671.2:g.97852187T>C	GRCh38
NC_000009.11:g.100614469T>C , CM000671.1:g.100614469T>C	GRCh37
NC_000009.10:g.99654290T>C	NCBI36
NG_011979.1:g.3933T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+689A>G
XR_930159.1:n.218+689A>G
XR_930160.1:n.218+689A>G
XR_930161.1:n.218+689A>G
NR_147055.1:n.165+729A>G