Canonical Allele Identifier: CA2600571298
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1228333626
gnomAD v3: 9-97851957-G-A
gnomAD v4: 9-97851957-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851957G>A , CM000671.2:g.97851957G>A GRCh38
NC_000009.11:g.100614239G>A , CM000671.1:g.100614239G>A GRCh37
NC_000009.10:g.99654060G>A NCBI36
NG_011979.1:g.3703G>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+919C>T
XR_930159.1:n.218+919C>T
XR_930160.1:n.218+919C>T
XR_930161.1:n.218+919C>T
NR_147055.1:n.165+959C>T
Search 100 bp 5'
Search 100 bp 3'