Canonical Allele Identifier: CA13119615
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs7850258

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97786731A>G , CM000671.2:g.97786731A>G GRCh38
NC_000009.11:g.100549013A>G , CM000671.1:g.100549013A>G GRCh37
NC_000009.10:g.99588834A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930161.1:n.363+23164T>C
XR_930162.1:n.66A>G
NR_147055.1:n.777+17520T>C