Canonical Allele Identifier: CA13087706
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs74606599
gnomAD v2: 9-100614651-G-T
gnomAD v3: 9-97852369-G-T
gnomAD v4: 9-97852369-G-T
MyVariant Identifiers: chr9:g.100614651G>T (hg19) chr9:g.97852369G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852369G>T , CM000671.2:g.97852369G>T GRCh38
NC_000009.11:g.100614651G>T , CM000671.1:g.100614651G>T GRCh37
NC_000009.10:g.99654472G>T NCBI36
NG_011979.1:g.4115G>T

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+507C>A
XR_930159.1:n.218+507C>A
XR_930160.1:n.218+507C>A
XR_930161.1:n.218+507C>A
NR_147055.1:n.165+547C>A
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