Canonical Allele Identifier: CA869019205
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs4743138

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852014A>C , CM000671.2:g.97852014A>C GRCh38
NC_000009.11:g.100614296A>C , CM000671.1:g.100614296A>C GRCh37
NC_000009.10:g.99654117A>C NCBI36
NG_011979.1:g.3760A>C

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+862T>G
XR_930159.1:n.218+862T>G
XR_930160.1:n.218+862T>G
XR_930161.1:n.218+862T>G
NR_147055.1:n.165+902T>G