Canonical Allele Identifier: CA869019104
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1554712842
gnomAD v3: 9-97851950-C-CT
gnomAD v4: 9-97851950-C-CT
MyVariant Identifiers: chr9:g.100614232_100614233insT (hg19) chr9:g.97851950_97851951insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851950_97851951insT , CM000671.2:g.97851950_97851951insT GRCh38
NC_000009.11:g.100614232_100614233insT , CM000671.1:g.100614232_100614233insT GRCh37
NC_000009.10:g.99654053_99654054insT NCBI36
NG_011979.1:g.3696_3697insT

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.218+925_218+926insA
XR_930159.1:n.218+925_218+926insA
XR_930160.1:n.218+925_218+926insA
XR_930161.1:n.218+925_218+926insA
NR_147055.1:n.165+965_165+966insA
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