Canonical Allele Identifier: CA589532966
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1554712821
gnomAD v2: 9-100614226-C-CCA
gnomAD v3: 9-97851944-C-CCA
gnomAD v4: 9-97851944-C-CCA
MyVariant Identifiers: chr9:g.100614226_100614227insCA (hg19) chr9:g.97851944_97851945insCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851945_97851946insAC , CM000671.2:g.97851945_97851946insAC GRCh38
NC_000009.11:g.100614227_100614228insAC , CM000671.1:g.100614227_100614228insAC GRCh37
NC_000009.10:g.99654048_99654049insAC NCBI36
NG_011979.1:g.3691_3692insAC

Transcript Alleles

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