Canonical Allele Identifier: CA869004619
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1416744393

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793904T>C , CM000671.2:g.97793904T>C GRCh38
NC_000009.11:g.100556186T>C , CM000671.1:g.100556186T>C GRCh37
NC_000009.10:g.99596007T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+15991A>G
NR_147055.1:n.777+10347A>G