Canonical Allele Identifier: CA2576374381
Gene: KCNJ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175087_70175089del , CM000679.2:g.70175087_70175089del GRCh38
NC_000017.10:g.68171228_68171230del , CM000679.1:g.68171228_68171230del GRCh37
NC_000017.9:g.65682823_65682825del NCBI36
NG_008798.1:g.10553_10555del , LRG_328:g.10553_10555del

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.48_50del MANE Select ENSP00000243457.2:p.Glu16del
ENST00000243457.3:c.48_50del ENSP00000243457.2:p.Glu16del
ENST00000535240.1:c.48_50del ENSP00000441848.1:p.Glu16del
NM_000891.2:c.48_50del , LRG_328t1:c.48_50del NP_000882.1:p.Glu16del
XM_011524779.1:c.48_50del XP_011523081.1:p.Glu16del
NM_000891.3:c.48_50del MANE Select NP_000882.1:p.Glu16del