Canonical Allele Identifier: CA197059082
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs150700819
gnomAD v3: 9-97852135-C-A
gnomAD v4: 9-97852135-C-A
MyVariant Identifiers: chr9:g.100614417C>A (hg19) chr9:g.97852135C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852135C>A , CM000671.2:g.97852135C>A GRCh38
NC_000009.11:g.100614417C>A , CM000671.1:g.100614417C>A GRCh37
NC_000009.10:g.99654238C>A NCBI36
NG_011979.1:g.3881C>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+741G>T
XR_930159.1:n.218+741G>T
XR_930160.1:n.218+741G>T
XR_930161.1:n.218+741G>T
NR_147055.1:n.165+781G>T
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