Canonical Allele Identifier: CA589532993

Gene: PTCSC2

Linked Data

• dbSNP Id: rs952851487
• gnomAD v2: 9-100614233-C-CG
• gnomAD v3: 9-97851951-C-CG
• gnomAD v4: 9-97851951-C-CG
• MyVariant Identifiers: chr9:g.100614233_100614234insG (hg19) ; chr9:g.97851951_97851952insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851951_97851952insG , CM000671.2:g.97851951_97851952insG	GRCh38
NC_000009.11:g.100614233_100614234insG , CM000671.1:g.100614233_100614234insG	GRCh37
NC_000009.10:g.99654054_99654055insG	NCBI36
NG_011979.1:g.3697_3698insG

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+924_218+925insC
XR_930159.1:n.218+924_218+925insC
XR_930160.1:n.218+924_218+925insC
XR_930161.1:n.218+924_218+925insC
NR_147055.1:n.165+964_165+965insC