Canonical Allele Identifier: CA501700465
Gene: KCNJ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.68172026G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175885G>A , CM000679.2:g.70175885G>A GRCh38
NC_000017.10:g.68172026G>A , CM000679.1:g.68172026G>A GRCh37
NC_000017.9:g.65683621G>A NCBI36
NG_008798.1:g.11351G>A , LRG_328:g.11351G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.846G>A MANE Select ENSP00000243457.2:p.Leu282=
ENST00000243457.3:c.846G>A ENSP00000243457.2:p.Leu282=
ENST00000535240.1:c.846G>A ENSP00000441848.1:p.Leu282=
NM_000891.2:c.846G>A , LRG_328t1:c.846G>A NP_000882.1:p.Leu282=
XM_011524779.1:c.846G>A XP_011523081.1:p.Leu282=
NM_000891.3:c.846G>A MANE Select NP_000882.1:p.Leu282=