Canonical Allele Identifier: CA1866668026
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830602071

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852528C>T , CM000671.2:g.97852528C>T GRCh38
NC_000009.11:g.100614810C>T , CM000671.1:g.100614810C>T GRCh37
NC_000009.10:g.99654631C>T NCBI36
NG_011979.1:g.4274C>T

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+348G>A
XR_930159.1:n.218+348G>A
XR_930160.1:n.218+348G>A
XR_930161.1:n.218+348G>A
NR_147055.1:n.165+388G>A