Canonical Allele Identifier: CA10646623
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 324843
ClinVar RCV Id: RCV000277018 RCV000315813 RCV000369489
dbSNP Id: rs397705636
gnomAD v2: 17-68173103-G-GGTT
gnomAD v3: 17-70176962-G-GGTT
gnomAD v4: 17-70176962-G-GGTT
MyVariant Identifiers: chr17:g.68173110_68173112dupGTT (hg19) chr17:g.68173103_68173104insGTT (hg19) chr17:g.70176969_70176971dupGTT (hg38) chr17:g.70176962_70176963insGTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70176969_70176971dup , CM000679.2:g.70176969_70176971dup GRCh38
NC_000017.10:g.68173110_68173112dup , CM000679.1:g.68173110_68173112dup GRCh37
NC_000017.9:g.65684705_65684707dup NCBI36
NG_008798.1:g.12435_12437dup , LRG_328:g.12435_12437dup

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.*646_*648dup MANE Select ENSP00000243457.2:n.*646_*648dup
ENST00000243457.3:c.*646_*648dup ENSP00000243457.2:n.*646_*648dup
NM_000891.2:c.*646_*648dup , LRG_328t1:c.*646_*648dup NP_000882.1:n.*646_*648dup
XM_011524779.1:c.*646_*648dup XP_011523081.1:n.*646_*648dup
NM_000891.3:c.*646_*648dup MANE Select NP_000882.1:n.*646_*648dup
Search 100 bp 5'
Search 100 bp 3'