Canonical Allele Identifier: CA1866668176
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830603893

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852622A>T , CM000671.2:g.97852622A>T GRCh38
NC_000009.11:g.100614904A>T , CM000671.1:g.100614904A>T GRCh37
NC_000009.10:g.99654725A>T NCBI36
NG_011979.1:g.4368A>T

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+254T>A
XR_930159.1:n.218+254T>A
XR_930160.1:n.218+254T>A
XR_930161.1:n.218+254T>A
NR_147055.1:n.165+294T>A