Canonical Allele Identifier: CA197059042
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs948306075
gnomAD v3: 9-97851879-G-A
gnomAD v4: 9-97851879-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851879G>A , CM000671.2:g.97851879G>A GRCh38
NC_000009.11:g.100614161G>A , CM000671.1:g.100614161G>A GRCh37
NC_000009.10:g.99653982G>A NCBI36
NG_011979.1:g.3625G>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+997C>T
XR_930159.1:n.218+997C>T
XR_930160.1:n.218+997C>T
XR_930161.1:n.218+997C>T
NR_147055.1:n.165+1037C>T