Canonical Allele Identifier: CA197059048

Gene: PTCSC2

Linked Data

• dbSNP Id: rs35778541
• gnomAD v2: 9-100614219-C-CAG
• gnomAD v3: 9-97851937-C-CAG
• gnomAD v4: 9-97851937-C-CAG
• MyVariant Identifiers: chr9:g.100614219_100614220insAG (hg19) ; chr9:g.97851937_97851938insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851937_97851938insAG , CM000671.2:g.97851937_97851938insAG	GRCh38
NC_000009.11:g.100614219_100614220insAG , CM000671.1:g.100614219_100614220insAG	GRCh37
NC_000009.10:g.99654040_99654041insAG	NCBI36
NG_011979.1:g.3683_3684insAG

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+938_218+939insCT
XR_930159.1:n.218+938_218+939insCT
XR_930160.1:n.218+938_218+939insCT
XR_930161.1:n.218+938_218+939insCT
NR_147055.1:n.165+978_165+979insCT