Canonical Allele Identifier: CA197059034
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs923156606
gnomAD v2: 9-100614129-C-A
gnomAD v3: 9-97851847-C-A
gnomAD v4: 9-97851847-C-A
MyVariant Identifiers: chr9:g.100614129C>A (hg19) chr9:g.97851847C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851847C>A , CM000671.2:g.97851847C>A GRCh38
NC_000009.11:g.100614129C>A , CM000671.1:g.100614129C>A GRCh37
NC_000009.10:g.99653950C>A NCBI36
NG_011979.1:g.3593C>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1029G>T
XR_930159.1:n.218+1029G>T
XR_930160.1:n.218+1029G>T
XR_930161.1:n.218+1029G>T
NR_147055.1:n.165+1069G>T
Search 100 bp 5'
Search 100 bp 3'