Canonical Allele Identifier: CA589532974
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1308604953
gnomAD v2: 9-100614228-C-CCG
gnomAD v3: 9-97851946-C-CCG
gnomAD v4: 9-97851946-C-CCG
MyVariant Identifiers: chr9:g.100614228_100614229insCG (hg19) chr9:g.97851946_97851947insCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851947_97851948insGC , CM000671.2:g.97851947_97851948insGC GRCh38
NC_000009.11:g.100614229_100614230insGC , CM000671.1:g.100614229_100614230insGC GRCh37
NC_000009.10:g.99654050_99654051insGC NCBI36
NG_011979.1:g.3693_3694insGC

Transcript Alleles

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