Canonical Allele Identifier: CA8738766
Gene: KCNJ2 HGNC NCBI

Linked Data

dbSNP Id: rs772189737
ExAC: 17:68172017 A / G
gnomAD v2: 17-68172017-A-G
gnomAD v3: 17-70175876-A-G
gnomAD v4: 17-70175876-A-G
MyVariant Identifiers: chr17:g.68172017A>G (hg19) chr17:g.70175876A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175876A>G , CM000679.2:g.70175876A>G GRCh38
NC_000017.10:g.68172017A>G , CM000679.1:g.68172017A>G GRCh37
NC_000017.9:g.65683612A>G NCBI36
NG_008798.1:g.11342A>G , LRG_328:g.11342A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.837A>G MANE Select ENSP00000243457.2:p.Leu279=
ENST00000243457.3:c.837A>G ENSP00000243457.2:p.Leu279=
ENST00000535240.1:c.837A>G ENSP00000441848.1:p.Leu279=
NM_000891.2:c.837A>G , LRG_328t1:c.837A>G NP_000882.1:p.Leu279=
XM_011524779.1:c.837A>G XP_011523081.1:p.Leu279=
NM_000891.3:c.837A>G MANE Select NP_000882.1:p.Leu279=
Search 100 bp 5'
Search 100 bp 3'