Canonical Allele Identifier: CA1866666601
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851657C= , CM000671.2:g.97851657C= GRCh38
NC_000009.11:g.100613939C= , CM000671.1:g.100613939C= GRCh37
NC_000009.10:g.99653760C= NCBI36
NG_011979.1:g.3403C=

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1219G=
XR_930159.1:n.218+1219G=
XR_930160.1:n.218+1219G=
XR_930161.1:n.218+1219G=
NR_147055.1:n.165+1259G=