Canonical Allele Identifier: CA1127208483
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830593145
gnomAD v3: 9-97851939-G-GCA
gnomAD v4: 9-97851939-G-GCA
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851940_97851941insAC , CM000671.2:g.97851940_97851941insAC GRCh38
NC_000009.11:g.100614222_100614223insAC , CM000671.1:g.100614222_100614223insAC GRCh37
NC_000009.10:g.99654043_99654044insAC NCBI36
NG_011979.1:g.3686_3687insAC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+936_218+937insTG
XR_930159.1:n.218+936_218+937insTG
XR_930160.1:n.218+936_218+937insTG
XR_930161.1:n.218+936_218+937insTG
NR_147055.1:n.165+976_165+977insTG
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