Canonical Allele Identifier: CA15611785
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs16924016
gnomAD v3: 9-97749049-C-T
gnomAD v4: 9-97749049-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97749049C>T , CM000671.2:g.97749049C>T GRCh38
NC_000009.11:g.100511331C>T , CM000671.1:g.100511331C>T GRCh37
NC_000009.10:g.99551152C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930161.1:n.364-26115G>A
NR_147055.1:n.778-24519G>A