Canonical Allele Identifier: CA8738770
Gene: KCNJ2 HGNC NCBI

Linked Data

dbSNP Id: rs776976697
ExAC: 17:68172033 C / G
gnomAD v2: 17-68172033-C-G
gnomAD v4: 17-70175892-C-G
MyVariant Identifiers: chr17:g.68172033C>G (hg19) chr17:g.70175892C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175892C>G , CM000679.2:g.70175892C>G GRCh38
NC_000017.10:g.68172033C>G , CM000679.1:g.68172033C>G GRCh37
NC_000017.9:g.65683628C>G NCBI36
NG_008798.1:g.11358C>G , LRG_328:g.11358C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.853C>G MANE Select ENSP00000243457.2:p.Gln285Glu
ENST00000243457.3:c.853C>G ENSP00000243457.2:p.Gln285Glu
ENST00000535240.1:c.853C>G ENSP00000441848.1:p.Gln285Glu
NM_000891.2:c.853C>G , LRG_328t1:c.853C>G NP_000882.1:p.Gln285Glu
XM_011524779.1:c.853C>G XP_011523081.1:p.Gln285Glu
NM_000891.3:c.853C>G MANE Select NP_000882.1:p.Gln285Glu
Search 100 bp 5'
Search 100 bp 3'