Canonical Allele Identifier: CA197059171
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs951406291

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852855G>A , CM000671.2:g.97852855G>A GRCh38
NC_000009.11:g.100615137G>A , CM000671.1:g.100615137G>A GRCh37
NC_000009.10:g.99654958G>A NCBI36
NG_011979.1:g.4601G>A

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.218+21C>T
XR_930159.1:n.218+21C>T
XR_930160.1:n.218+21C>T
XR_930161.1:n.218+21C>T
NR_147055.1:n.165+61C>T