Canonical Allele Identifier: CA2720102805
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1587807016

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851893A>G , CM000671.2:g.97851893A>G GRCh38
NC_000009.11:g.100614175A>G , CM000671.1:g.100614175A>G GRCh37
NC_000009.10:g.99653996A>G NCBI36
NG_011979.1:g.3639A>G

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+983T>C
XR_930159.1:n.218+983T>C
XR_930160.1:n.218+983T>C
XR_930161.1:n.218+983T>C
NR_147055.1:n.165+1023T>C