Canonical Allele Identifier: CA627290066
Gene: KCNJ2 HGNC NCBI
gnomAD v2:
17:68171018 G / GTC
gnomAD v3:
17:70174877 G / GTC
gnomAD v4:
chr17-70174877-G-GTC
Joint Max Group AF 0.06957738 (AFR)
Genomes Max Group AF 0.06933942 (AFR)
Exomes Max Group AF 0.06774297 (AFR)
ClinVar Allele:
1263384
ClinVar RCV:
RCV001684907
RCV002496006
ClinVar Variation:
1273919
dbSNP:
61077847
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70174877_70174878insTC , CM000679.2:g.70174877_70174878insTC GRCh38
NC_000017.10:g.68171018_68171019insTC , CM000679.1:g.68171018_68171019insTC GRCh37
NC_000017.9:g.65682613_65682614insTC NCBI36
NG_008798.1:g.10343_10344insTC , LRG_328:g.10343_10344insTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.-163_-162insTC MANE Select ENSP00000243457.2:n.-163_-162insTC
ENST00000243457.3:c.-163_-162insTC ENSP00000243457.2:n.-163_-162insTC
ENST00000535240.1:c.-163_-162insTC ENSP00000441848.1:n.-163_-162insTC
NM_000891.2:c.-163_-162insTC , LRG_328t1:c.-163_-162insTC NP_000882.1:n.-163_-162insTC
XM_011524779.1:c.-163_-162insTC XP_011523081.1:n.-163_-162insTC
NM_000891.3:c.-163_-162insTC MANE Select NP_000882.1:n.-163_-162insTC
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