Canonical Allele Identifier: CA15600438
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs10759944
gnomAD v2: 9-100556972-A-G
gnomAD v3: 9-97794690-A-G
gnomAD v4: 9-97794690-A-G
MyVariant Identifiers: chr9:g.100556972A>G (hg19) chr9:g.97794690A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97794690A>G , CM000671.2:g.97794690A>G GRCh38
NC_000009.11:g.100556972A>G , CM000671.1:g.100556972A>G GRCh37
NC_000009.10:g.99596793A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930161.1:n.363+15205T>C
NR_147055.1:n.777+9561T>C
Search 100 bp 5'
Search 100 bp 3'