Canonical Allele Identifier: CA869018980
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1177837235
gnomAD v3: 9-97851945-C-CG
gnomAD v4: 9-97851945-C-CG
MyVariant Identifiers: chr9:g.100614227_100614228insG (hg19) chr9:g.97851945_97851946insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851945_97851946insG , CM000671.2:g.97851945_97851946insG GRCh38
NC_000009.11:g.100614227_100614228insG , CM000671.1:g.100614227_100614228insG GRCh37
NC_000009.10:g.99654048_99654049insG NCBI36
NG_011979.1:g.3691_3692insG

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+930_218+931insC
XR_930159.1:n.218+930_218+931insC
XR_930160.1:n.218+930_218+931insC
XR_930161.1:n.218+930_218+931insC
NR_147055.1:n.165+970_165+971insC
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