Canonical Allele Identifier: CA2785233601
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851982A>T , CM000671.2:g.97851982A>T GRCh38
NC_000009.11:g.100614264A>T , CM000671.1:g.100614264A>T GRCh37
NC_000009.10:g.99654085A>T NCBI36
NG_011979.1:g.3728A>T

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+894T>A
XR_930159.1:n.218+894T>A
XR_930160.1:n.218+894T>A
XR_930161.1:n.218+894T>A
NR_147055.1:n.165+934T>A