Canonical Allele Identifier: CA2600571013
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs2131484283
gnomAD v3: 9-97852762-G-A
gnomAD v4: 9-97852762-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852762G>A , CM000671.2:g.97852762G>A GRCh38
NC_000009.11:g.100615044G>A , CM000671.1:g.100615044G>A GRCh37
NC_000009.10:g.99654865G>A NCBI36
NG_011979.1:g.4508G>A

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.218+114C>T
XR_930159.1:n.218+114C>T
XR_930160.1:n.218+114C>T
XR_930161.1:n.218+114C>T
NR_147055.1:n.165+154C>T
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