Canonical Allele Identifier: CA658820863
Gene: KCNJ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175527_70175532del , CM000679.2:g.70175527_70175532del GRCh38
NC_000017.10:g.68171668_68171673del , CM000679.1:g.68171668_68171673del GRCh37
NC_000017.9:g.65683263_65683268del NCBI36
NG_008798.1:g.10993_10998del , LRG_328:g.10993_10998del

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.488_493del MANE Select ENSP00000243457.2:p.Phe163_Gln164del
ENST00000243457.3:c.488_493del ENSP00000243457.2:p.Phe163_Gln164del
ENST00000535240.1:c.488_493del ENSP00000441848.1:p.Phe163_Gln164del
NM_000891.2:c.488_493del , LRG_328t1:c.488_493del NP_000882.1:p.Phe163_Gln164del
XM_011524779.1:c.488_493del XP_011523081.1:p.Phe163_Gln164del
NM_000891.3:c.488_493del MANE Select NP_000882.1:p.Phe163_Gln164del