Canonical Allele Identifier: CA589533532
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1225162083
gnomAD v2: 9-100556055-G-A
gnomAD v3: 9-97793773-G-A
gnomAD v4: 9-97793773-G-A
MyVariant Identifiers: chr9:g.100556055G>A (hg19) chr9:g.97793773G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793773G>A , CM000671.2:g.97793773G>A GRCh38
NC_000009.11:g.100556055G>A , CM000671.1:g.100556055G>A GRCh37
NC_000009.10:g.99595876G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16122C>T
XR_930162.1:n.6458G>A
NR_147055.1:n.777+10478C>T
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