Canonical Allele Identifier: CA197059126
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs931241264
gnomAD v3: 9-97852492-A-T
gnomAD v4: 9-97852492-A-T
MyVariant Identifiers: chr9:g.100614774A>T (hg19) chr9:g.97852492A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852492A>T , CM000671.2:g.97852492A>T GRCh38
NC_000009.11:g.100614774A>T , CM000671.1:g.100614774A>T GRCh37
NC_000009.10:g.99654595A>T NCBI36
NG_011979.1:g.4238A>T

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+384T>A
XR_930159.1:n.218+384T>A
XR_930160.1:n.218+384T>A
XR_930161.1:n.218+384T>A
NR_147055.1:n.165+424T>A
Search 100 bp 5'
Search 100 bp 3'