Canonical Allele Identifier: CA1866691002
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830045206

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793893T>C , CM000671.2:g.97793893T>C GRCh38
NC_000009.11:g.100556175T>C , CM000671.1:g.100556175T>C GRCh37
NC_000009.10:g.99595996T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930161.1:n.363+16002A>G
NR_147055.1:n.777+10358A>G