Canonical Allele Identifier: CA197053082
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs375014106

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793693T>C , CM000671.2:g.97793693T>C GRCh38
NC_000009.11:g.100555975T>C , CM000671.1:g.100555975T>C GRCh37
NC_000009.10:g.99595796T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16202A>G
XR_930162.1:n.6378T>C
NR_147055.1:n.777+10558A>G