Canonical Allele Identifier: CA589533061
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1440079034
gnomAD v2: 9-100614832-T-C
gnomAD v3: 9-97852550-T-C
gnomAD v4: 9-97852550-T-C
MyVariant Identifiers: chr9:g.100614832T>C (hg19) chr9:g.97852550T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852550T>C , CM000671.2:g.97852550T>C GRCh38
NC_000009.11:g.100614832T>C , CM000671.1:g.100614832T>C GRCh37
NC_000009.10:g.99654653T>C NCBI36
NG_011979.1:g.4296T>C

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+326A>G
XR_930159.1:n.218+326A>G
XR_930160.1:n.218+326A>G
XR_930161.1:n.218+326A>G
NR_147055.1:n.165+366A>G
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