Canonical Allele Identifier: CA589533077
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1169738183
gnomAD v2: 9-100615148-C-G
gnomAD v3: 9-97852866-C-G
gnomAD v4: 9-97852866-C-G
MyVariant Identifiers: chr9:g.100615148C>G (hg19) chr9:g.97852866C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852866C>G , CM000671.2:g.97852866C>G GRCh38
NC_000009.11:g.100615148C>G , CM000671.1:g.100615148C>G GRCh37
NC_000009.10:g.99654969C>G NCBI36
NG_011979.1:g.4612C>G

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.218+10G>C
XR_930159.1:n.218+10G>C
XR_930160.1:n.218+10G>C
XR_930161.1:n.218+10G>C
NR_147055.1:n.165+50G>C
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