Canonical Allele Identifier: CA627291057
Gene: KCNJ2 HGNC NCBI

Linked Data

dbSNP Id: rs1157155702
gnomAD v2: 17-68175602-TAA-T
gnomAD v3: 17-70179461-TAA-T
gnomAD v4: 17-70179461-TAA-T
MyVariant Identifiers: chr17:g.68175603_68175604del (hg19) chr17:g.70179462_70179463del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70179462_70179463del , CM000679.2:g.70179462_70179463del GRCh38
NC_000017.10:g.68175603_68175604del , CM000679.1:g.68175603_68175604del GRCh37
NC_000017.9:g.65687198_65687199del NCBI36
NG_008798.1:g.14928_14929del , LRG_328:g.14928_14929del

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.*3139_*3140del MANE Select ENSP00000243457.2:n.*3139_*3140del
ENST00000243457.3:c.*3139_*3140del ENSP00000243457.2:n.*3139_*3140del
NM_000891.2:c.*3139_*3140del , LRG_328t1:c.*3139_*3140del NP_000882.1:n.*3139_*3140del
NM_000891.3:c.*3139_*3140del MANE Select NP_000882.1:n.*3139_*3140del
Search 100 bp 5'
Search 100 bp 3'