Canonical Allele Identifier: CA915796132
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1564075603
gnomAD v3: 9-97793795-G-C
gnomAD v4: 9-97793795-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793795G>C , CM000671.2:g.97793795G>C GRCh38
NC_000009.11:g.100556077G>C , CM000671.1:g.100556077G>C GRCh37
NC_000009.10:g.99595898G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16100C>G
XR_930162.1:n.6480G>C
NR_147055.1:n.777+10456C>G