Canonical Allele Identifier: CA869018990

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1177837235
• gnomAD v3: 9-97851945-C-CT
• gnomAD v4: 9-97851945-C-CT
• MyVariant Identifiers: chr9:g.100614227_100614228insT (hg19) ; chr9:g.97851945_97851946insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851945_97851946insT , CM000671.2:g.97851945_97851946insT	GRCh38
NC_000009.11:g.100614227_100614228insT , CM000671.1:g.100614227_100614228insT	GRCh37
NC_000009.10:g.99654048_99654049insT	NCBI36
NG_011979.1:g.3691_3692insT

Transcript Alleles

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