Canonical Allele Identifier: CA589532967
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830593778
gnomAD v2: 9-100614226-C-CCCG
gnomAD v3: 9-97851944-C-CCCG
gnomAD v4: 9-97851944-C-CCCG
MyVariant Identifiers: chr9:g.100614226_100614227insCCG (hg19) chr9:g.97851944_97851945insCCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851946_97851947insGCC , CM000671.2:g.97851946_97851947insGCC GRCh38
NC_000009.11:g.100614228_100614229insGCC , CM000671.1:g.100614228_100614229insGCC GRCh37
NC_000009.10:g.99654049_99654050insGCC NCBI36
NG_011979.1:g.3692_3693insGCC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+931_218+932insCGG
XR_930159.1:n.218+931_218+932insCGG
XR_930160.1:n.218+931_218+932insCGG
XR_930161.1:n.218+931_218+932insCGG
NR_147055.1:n.165+971_165+972insCGG
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