Canonical Allele Identifier: CA1866690974
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793827A>C , CM000671.2:g.97793827A>C GRCh38
NC_000009.11:g.100556109A>C , CM000671.1:g.100556109A>C GRCh37
NC_000009.10:g.99595930A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16068T>G
XR_930162.1:n.6512A>C
NR_147055.1:n.777+10424T>G