Canonical Allele Identifier: CA589532990
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1270570882
gnomAD v2: 9-100614232-C-CCG
gnomAD v3: 9-97851950-C-CCG
gnomAD v4: 9-97851950-C-CCG
MyVariant Identifiers: chr9:g.100614232_100614233insCG (hg19) chr9:g.97851950_97851951insCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851951_97851952insGC , CM000671.2:g.97851951_97851952insGC GRCh38
NC_000009.11:g.100614233_100614234insGC , CM000671.1:g.100614233_100614234insGC GRCh37
NC_000009.10:g.99654054_99654055insGC NCBI36
NG_011979.1:g.3697_3698insGC

Transcript Alleles

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