Canonical Allele Identifier: CA197053090
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs932900991

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793757T>C , CM000671.2:g.97793757T>C GRCh38
NC_000009.11:g.100556039T>C , CM000671.1:g.100556039T>C GRCh37
NC_000009.10:g.99595860T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16138A>G
XR_930162.1:n.6442T>C
NR_147055.1:n.777+10494A>G