Canonical Allele Identifier: CA589532977

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1554712827
• gnomAD v2: 9-100614229-C-CA
• gnomAD v3: 9-97851947-C-CA
• gnomAD v4: 9-97851947-C-CA
• MyVariant Identifiers: chr9:g.100614229_100614230insA (hg19) ; chr9:g.97851947_97851948insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851947_97851948insA , CM000671.2:g.97851947_97851948insA	GRCh38
NC_000009.11:g.100614229_100614230insA , CM000671.1:g.100614229_100614230insA	GRCh37
NC_000009.10:g.99654050_99654051insA	NCBI36
NG_011979.1:g.3693_3694insA

Transcript Alleles

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