Canonical Allele Identifier: CA2510868447
Gene: PTCSC2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793856C>A , CM000671.2:g.97793856C>A GRCh38
NC_000009.11:g.100556138C>A , CM000671.1:g.100556138C>A GRCh37
NC_000009.10:g.99595959C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16039G>T
XR_930162.1:n.6541C>A
NR_147055.1:n.777+10395G>T
Search 100 bp 5'
Search 100 bp 3'