Canonical Allele Identifier: CA869004587
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1351804467

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793721G>A , CM000671.2:g.97793721G>A GRCh38
NC_000009.11:g.100556003G>A , CM000671.1:g.100556003G>A GRCh37
NC_000009.10:g.99595824G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16174C>T
XR_930162.1:n.6406G>A
NR_147055.1:n.777+10530C>T