Canonical Allele Identifier: CA1866666612
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs10046805

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851674G>C , CM000671.2:g.97851674G>C GRCh38
NC_000009.11:g.100613956G>C , CM000671.1:g.100613956G>C GRCh37
NC_000009.10:g.99653777G>C NCBI36
NG_011979.1:g.3420G>C

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1202C>G
XR_930159.1:n.218+1202C>G
XR_930160.1:n.218+1202C>G
XR_930161.1:n.218+1202C>G
NR_147055.1:n.165+1242C>G