Canonical Allele Identifier: CA869004633
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1352076437

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793941G>T , CM000671.2:g.97793941G>T GRCh38
NC_000009.11:g.100556223G>T , CM000671.1:g.100556223G>T GRCh37
NC_000009.10:g.99596044G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+15954C>A
NR_147055.1:n.777+10310C>A