Canonical Allele Identifier: CA1866667340
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830596080

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852051A>G , CM000671.2:g.97852051A>G GRCh38
NC_000009.11:g.100614333A>G , CM000671.1:g.100614333A>G GRCh37
NC_000009.10:g.99654154A>G NCBI36
NG_011979.1:g.3797A>G

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+825T>C
XR_930159.1:n.218+825T>C
XR_930160.1:n.218+825T>C
XR_930161.1:n.218+825T>C
NR_147055.1:n.165+865T>C