Canonical Allele Identifier: CA16368865
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs3758249
gnomAD v3: 9-97851858-T-C
gnomAD v4: 9-97851858-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851858T>C , CM000671.2:g.97851858T>C GRCh38
NC_000009.11:g.100614140T>C , CM000671.1:g.100614140T>C GRCh37
NC_000009.10:g.99653961T>C NCBI36
NG_011979.1:g.3604T>C

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.218+1018A>G
XR_930159.1:n.218+1018A>G
XR_930160.1:n.218+1018A>G
XR_930161.1:n.218+1018A>G
NR_147055.1:n.165+1058A>G