Canonical Allele Identifier: CA869004581
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs77272073

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793691G>C , CM000671.2:g.97793691G>C GRCh38
NC_000009.11:g.100555973G>C , CM000671.1:g.100555973G>C GRCh37
NC_000009.10:g.99595794G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16204C>G
XR_930162.1:n.6376G>C
NR_147055.1:n.777+10560C>G