Canonical Allele Identifier: CA2526544974
Gene: KCNJ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175829_70175830insATTTGAGGAGC , CM000679.2:g.70175829_70175830insATTTGAGGAGC GRCh38
NC_000017.10:g.68171970_68171971insATTTGAGGAGC , CM000679.1:g.68171970_68171971insATTTGAGGAGC GRCh37
NC_000017.9:g.65683565_65683566insATTTGAGGAGC NCBI36
NG_008798.1:g.11295_11296insATTTGAGGAGC , LRG_328:g.11295_11296insATTTGAGGAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.790_791insATTTGAGGAGC MANE Select ENSP00000243457.2:p.Val264AspfsTer10
ENST00000243457.3:c.790_791insATTTGAGGAGC ENSP00000243457.2:p.Val264AspfsTer10
ENST00000535240.1:c.790_791insATTTGAGGAGC ENSP00000441848.1:p.Val264AspfsTer10
NM_000891.2:c.790_791insATTTGAGGAGC , LRG_328t1:c.790_791insATTTGAGGAGC NP_000882.1:p.Val264AspfsTer10
XM_011524779.1:c.790_791insATTTGAGGAGC XP_011523081.1:p.Val264AspfsTer10
NM_000891.3:c.790_791insATTTGAGGAGC MANE Select NP_000882.1:p.Val264AspfsTer10