Canonical Allele Identifier: CA589532960

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1554712819
• gnomAD v2: 9-100614225-C-CCA
• gnomAD v3: 9-97851943-C-CCA
• gnomAD v4: 9-97851943-C-CCA
• MyVariant Identifiers: chr9:g.100614225_100614226insCA (hg19) ; chr9:g.97851943_97851944insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851944_97851945insAC , CM000671.2:g.97851944_97851945insAC	GRCh38
NC_000009.11:g.100614226_100614227insAC , CM000671.1:g.100614226_100614227insAC	GRCh37
NC_000009.10:g.99654047_99654048insAC	NCBI36
NG_011979.1:g.3690_3691insAC

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+932_218+933insTG
XR_930159.1:n.218+932_218+933insTG
XR_930160.1:n.218+932_218+933insTG
XR_930161.1:n.218+932_218+933insTG
NR_147055.1:n.165+972_165+973insTG