Canonical Allele Identifier: CA13079650
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs111846096
gnomAD v3: 9-97852049-C-G
gnomAD v4: 9-97852049-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852049C>G , CM000671.2:g.97852049C>G GRCh38
NC_000009.11:g.100614331C>G , CM000671.1:g.100614331C>G GRCh37
NC_000009.10:g.99654152C>G NCBI36
NG_011979.1:g.3795C>G

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.218+827G>C
XR_930159.1:n.218+827G>C
XR_930160.1:n.218+827G>C
XR_930161.1:n.218+827G>C
NR_147055.1:n.165+867G>C