Canonical Allele Identifier: CA589533056
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1246721630
gnomAD v2: 9-100614693-T-C
gnomAD v3: 9-97852411-T-C
gnomAD v4: 9-97852411-T-C
MyVariant Identifiers: chr9:g.100614693T>C (hg19) chr9:g.97852411T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852411T>C , CM000671.2:g.97852411T>C GRCh38
NC_000009.11:g.100614693T>C , CM000671.1:g.100614693T>C GRCh37
NC_000009.10:g.99654514T>C NCBI36
NG_011979.1:g.4157T>C

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+465A>G
XR_930159.1:n.218+465A>G
XR_930160.1:n.218+465A>G
XR_930161.1:n.218+465A>G
NR_147055.1:n.165+505A>G
Search 100 bp 5'
Search 100 bp 3'