Canonical Allele Identifier: CA1127208945
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830600521
gnomAD v3: 9-97852449-T-G
gnomAD v4: 9-97852449-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852449T>G , CM000671.2:g.97852449T>G GRCh38
NC_000009.11:g.100614731T>G , CM000671.1:g.100614731T>G GRCh37
NC_000009.10:g.99654552T>G NCBI36
NG_011979.1:g.4195T>G

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+427A>C
XR_930159.1:n.218+427A>C
XR_930160.1:n.218+427A>C
XR_930161.1:n.218+427A>C
NR_147055.1:n.165+467A>C
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