Canonical Allele Identifier: CA589532952

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1554712816
• gnomAD v2: 9-100614222-C-CCG
• gnomAD v3: 9-97851940-C-CCG
• gnomAD v4: 9-97851940-C-CCG
• MyVariant Identifiers: chr9:g.100614222_100614223insCG (hg19) ; chr9:g.97851940_97851941insCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851941_97851942insGC , CM000671.2:g.97851941_97851942insGC	GRCh38
NC_000009.11:g.100614223_100614224insGC , CM000671.1:g.100614223_100614224insGC	GRCh37
NC_000009.10:g.99654044_99654045insGC	NCBI36
NG_011979.1:g.3687_3688insGC

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+935_218+936insCG
XR_930159.1:n.218+935_218+936insCG
XR_930160.1:n.218+935_218+936insCG
XR_930161.1:n.218+935_218+936insCG
NR_147055.1:n.165+975_165+976insCG