Canonical Allele Identifier: CA869018743
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1199733433

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851776A>C , CM000671.2:g.97851776A>C GRCh38
NC_000009.11:g.100614058A>C , CM000671.1:g.100614058A>C GRCh37
NC_000009.10:g.99653879A>C NCBI36
NG_011979.1:g.3522A>C

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1100T>G
XR_930159.1:n.218+1100T>G
XR_930160.1:n.218+1100T>G
XR_930161.1:n.218+1100T>G
NR_147055.1:n.165+1140T>G