Canonical Allele Identifier: CA869004607
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1306447753

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793830G>A , CM000671.2:g.97793830G>A GRCh38
NC_000009.11:g.100556112G>A , CM000671.1:g.100556112G>A GRCh37
NC_000009.10:g.99595933G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930161.1:n.363+16065C>T
XR_930162.1:n.6515G>A
NR_147055.1:n.777+10421C>T