Canonical Allele Identifier: CA1866667791
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830599639
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852383C>T , CM000671.2:g.97852383C>T GRCh38
NC_000009.11:g.100614665C>T , CM000671.1:g.100614665C>T GRCh37
NC_000009.10:g.99654486C>T NCBI36
NG_011979.1:g.4129C>T

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+493G>A
XR_930159.1:n.218+493G>A
XR_930160.1:n.218+493G>A
XR_930161.1:n.218+493G>A
NR_147055.1:n.165+533G>A
Search 100 bp 5'
Search 100 bp 3'