Canonical Allele Identifier: CA197053097
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs906580114
gnomAD v2: 9-100556211-G-A
gnomAD v3: 9-97793929-G-A
gnomAD v4: 9-97793929-G-A
MyVariant Identifiers: chr9:g.100556211G>A (hg19) chr9:g.97793929G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793929G>A , CM000671.2:g.97793929G>A GRCh38
NC_000009.11:g.100556211G>A , CM000671.1:g.100556211G>A GRCh37
NC_000009.10:g.99596032G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+15966C>T
NR_147055.1:n.777+10322C>T
Search 100 bp 5'
Search 100 bp 3'