Canonical Allele Identifier: CA197059175
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs202083084
gnomAD v2: 9-100615168-C-CA
gnomAD v3: 9-97852886-C-CA
gnomAD v4: 9-97852886-C-CA
MyVariant Identifiers: chr9:g.100615168_100615169insA (hg19) chr9:g.97852886_97852887insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852892dup , CM000671.2:g.97852892dup GRCh38
NC_000009.11:g.100615174dup , CM000671.1:g.100615174dup GRCh37
NC_000009.10:g.99654995dup NCBI36
NG_011979.1:g.4638dup

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.207dup
XR_930159.1:n.207dup
XR_930160.1:n.207dup
XR_930161.1:n.207dup
NR_147055.1:n.165+29dup
Search 100 bp 5'
Search 100 bp 3'