Canonical Allele Identifier: CA2537795491
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851907T>G , CM000671.2:g.97851907T>G GRCh38
NC_000009.11:g.100614189T>G , CM000671.1:g.100614189T>G GRCh37
NC_000009.10:g.99654010T>G NCBI36
NG_011979.1:g.3653T>G

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+969A>C
XR_930159.1:n.218+969A>C
XR_930160.1:n.218+969A>C
XR_930161.1:n.218+969A>C
NR_147055.1:n.165+1009A>C