Canonical Allele Identifier: CA1127208507
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830593523
gnomAD v3: 9-97851942-C-CCG
gnomAD v4: 9-97851942-C-CCG
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851943_97851944insGC , CM000671.2:g.97851943_97851944insGC GRCh38
NC_000009.11:g.100614225_100614226insGC , CM000671.1:g.100614225_100614226insGC GRCh37
NC_000009.10:g.99654046_99654047insGC NCBI36
NG_011979.1:g.3689_3690insGC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+933_218+934insCG
XR_930159.1:n.218+933_218+934insCG
XR_930160.1:n.218+933_218+934insCG
XR_930161.1:n.218+933_218+934insCG
NR_147055.1:n.165+973_165+974insCG
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