Canonical Allele Identifier: CA197053093
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs928694133

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793784G>C , CM000671.2:g.97793784G>C GRCh38
NC_000009.11:g.100556066G>C , CM000671.1:g.100556066G>C GRCh37
NC_000009.10:g.99595887G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16111C>G
XR_930162.1:n.6469G>C
NR_147055.1:n.777+10467C>G