Canonical Allele Identifier: CA197059052
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs34618971
gnomAD v2: 9-100614221-G-GC
gnomAD v3: 9-97851939-G-GC
gnomAD v4: 9-97851939-G-GC
MyVariant Identifiers: chr9:g.100614222_100614223insC (hg19) chr9:g.100614221_100614222insC (hg19) chr9:g.97851940_97851941insC (hg38) chr9:g.97851939_97851940insC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851951dup , CM000671.2:g.97851951dup GRCh38
NC_000009.11:g.100614233dup , CM000671.1:g.100614233dup GRCh37
NC_000009.10:g.99654054dup NCBI36
NG_011979.1:g.3697dup

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+936dup
XR_930159.1:n.218+936dup
XR_930160.1:n.218+936dup
XR_930161.1:n.218+936dup
NR_147055.1:n.165+976dup
Search 100 bp 5'
Search 100 bp 3'