Canonical Allele Identifier: CA197059112
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs146835176
gnomAD v2: 9-100614667-T-C
gnomAD v3: 9-97852385-T-C
gnomAD v4: 9-97852385-T-C
MyVariant Identifiers: chr9:g.100614667T>C (hg19) chr9:g.97852385T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852385T>C , CM000671.2:g.97852385T>C GRCh38
NC_000009.11:g.100614667T>C , CM000671.1:g.100614667T>C GRCh37
NC_000009.10:g.99654488T>C NCBI36
NG_011979.1:g.4131T>C

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+491A>G
XR_930159.1:n.218+491A>G
XR_930160.1:n.218+491A>G
XR_930161.1:n.218+491A>G
NR_147055.1:n.165+531A>G
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