Canonical Allele Identifier: CA350368
Gene: KCNJ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175446_70175448delinsTTT , CM000679.2:g.70175446_70175448delinsTTT GRCh38
NC_000017.10:g.68171587_68171589delinsTTT , CM000679.1:g.68171587_68171589delinsTTT GRCh37
NC_000017.9:g.65683182_65683184delinsTTT NCBI36
NG_008798.1:g.10912_10914delinsTTT , LRG_328:g.10912_10914delinsTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.407_409delinsTTT MANE Select ENSP00000243457.2:p.Ser136_Ile137delinsPhePhe
ENST00000243457.3:c.407_409delinsTTT ENSP00000243457.2:p.Ser136_Ile137delinsPhePhe
ENST00000535240.1:c.407_409delinsTTT ENSP00000441848.1:p.Ser136_Ile137delinsPhePhe
NM_000891.2:c.407_409delinsTTT , LRG_328t1:c.407_409delinsTTT NP_000882.1:p.Ser136_Ile137delinsPhePhe
XM_011524779.1:c.407_409delinsTTT XP_011523081.1:p.Ser136_Ile137delinsPhePhe
NM_000891.3:c.407_409delinsTTT MANE Select NP_000882.1:p.Ser136_Ile137delinsPhePhe
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