Canonical Allele Identifier: CA197059177
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs962691386
gnomAD v3: 9-97852887-A-T
gnomAD v4: 9-97852887-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852887A>T , CM000671.2:g.97852887A>T GRCh38
NC_000009.11:g.100615169A>T , CM000671.1:g.100615169A>T GRCh37
NC_000009.10:g.99654990A>T NCBI36
NG_011979.1:g.4633A>T

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.207T>A
XR_930159.1:n.207T>A
XR_930160.1:n.207T>A
XR_930161.1:n.207T>A
NR_147055.1:n.165+29T>A