Canonical Allele Identifier: CA915796445
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1564088046
gnomAD v3: 9-97852016-G-A
gnomAD v4: 9-97852016-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852016G>A , CM000671.2:g.97852016G>A GRCh38
NC_000009.11:g.100614298G>A , CM000671.1:g.100614298G>A GRCh37
NC_000009.10:g.99654119G>A NCBI36
NG_011979.1:g.3762G>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+860C>T
XR_930159.1:n.218+860C>T
XR_930160.1:n.218+860C>T
XR_930161.1:n.218+860C>T
NR_147055.1:n.165+900C>T