Canonical Allele Identifier: CA589533536
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1165202934
gnomAD v2: 9-100556210-C-T
gnomAD v3: 9-97793928-C-T
gnomAD v4: 9-97793928-C-T
MyVariant Identifiers: chr9:g.100556210C>T (hg19) chr9:g.97793928C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793928C>T , CM000671.2:g.97793928C>T GRCh38
NC_000009.11:g.100556210C>T , CM000671.1:g.100556210C>T GRCh37
NC_000009.10:g.99596031C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930161.1:n.363+15967G>A
NR_147055.1:n.777+10323G>A
Search 100 bp 5'
Search 100 bp 3'