Canonical Allele Identifier: CA589532979

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1163017168
• gnomAD v2: 9-100614229-C-CCG
• gnomAD v3: 9-97851947-C-CCG
• gnomAD v4: 9-97851947-C-CCG
• MyVariant Identifiers: chr9:g.100614229_100614230insCG (hg19) ; chr9:g.97851947_97851948insCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851948_97851949insGC , CM000671.2:g.97851948_97851949insGC	GRCh38
NC_000009.11:g.100614230_100614231insGC , CM000671.1:g.100614230_100614231insGC	GRCh37
NC_000009.10:g.99654051_99654052insGC	NCBI36
NG_011979.1:g.3694_3695insGC

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+928_218+929insCG
XR_930159.1:n.218+928_218+929insCG
XR_930160.1:n.218+928_218+929insCG
XR_930161.1:n.218+928_218+929insCG
NR_147055.1:n.165+968_165+969insCG