Canonical Allele Identifier: CA8738761
Gene: KCNJ2 HGNC NCBI

Linked Data

dbSNP Id: rs780976921
ExAC: 17:68171909 C / A
gnomAD v2: 17-68171909-C-A
gnomAD v4: 17-70175768-C-A
MyVariant Identifiers: chr17:g.68171909C>A (hg19) chr17:g.70175768C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175768C>A , CM000679.2:g.70175768C>A GRCh38
NC_000017.10:g.68171909C>A , CM000679.1:g.68171909C>A GRCh37
NC_000017.9:g.65683504C>A NCBI36
NG_008798.1:g.11234C>A , LRG_328:g.11234C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.729C>A MANE Select ENSP00000243457.2:p.Ile243=
ENST00000243457.3:c.729C>A ENSP00000243457.2:p.Ile243=
ENST00000535240.1:c.729C>A ENSP00000441848.1:p.Ile243=
NM_000891.2:c.729C>A , LRG_328t1:c.729C>A NP_000882.1:p.Ile243=
XM_011524779.1:c.729C>A XP_011523081.1:p.Ile243=
NM_000891.3:c.729C>A MANE Select NP_000882.1:p.Ile243=
Search 100 bp 5'
Search 100 bp 3'