Canonical Allele Identifier: CA589532973

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1308604953
• gnomAD v2: 9-100614228-C-CCA
• gnomAD v3: 9-97851946-C-CCA
• gnomAD v4: 9-97851946-C-CCA
• MyVariant Identifiers: chr9:g.100614228_100614229insCA (hg19) ; chr9:g.97851946_97851947insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851947_97851948insAC , CM000671.2:g.97851947_97851948insAC	GRCh38
NC_000009.11:g.100614229_100614230insAC , CM000671.1:g.100614229_100614230insAC	GRCh37
NC_000009.10:g.99654050_99654051insAC	NCBI36
NG_011979.1:g.3693_3694insAC

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+929_218+930insTG
XR_930159.1:n.218+929_218+930insTG
XR_930160.1:n.218+929_218+930insTG
XR_930161.1:n.218+929_218+930insTG
NR_147055.1:n.165+969_165+970insTG