Canonical Allele Identifier: CA302079
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 190823
ClinVar RCV Id: RCV000624355
dbSNP Id: rs786205822

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175955_70175957del , CM000679.2:g.70175955_70175957del GRCh38
NC_000017.10:g.68172096_68172098del , CM000679.1:g.68172096_68172098del GRCh37
NC_000017.9:g.65683691_65683693del NCBI36
NG_008798.1:g.11421_11423del , LRG_328:g.11421_11423del

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.916_918del MANE Select ENSP00000243457.2:p.Ala306del
ENST00000243457.3:c.916_918del ENSP00000243457.2:p.Ala306del
ENST00000535240.1:c.916_918del ENSP00000441848.1:p.Ala306del
NM_000891.2:c.916_918del , LRG_328t1:c.916_918del NP_000882.1:p.Ala306del
XM_011524779.1:c.916_918del XP_011523081.1:p.Ala306del
NM_000891.3:c.916_918del MANE Select NP_000882.1:p.Ala306del