Canonical Allele Identifier: CA400860024
Gene: KCNJ2 HGNC NCBI

Linked Data

dbSNP Id: rs1273518954
gnomAD v2: 17-68171350-A-G
gnomAD v4: 17-70175209-A-G
MyVariant Identifiers: chr17:g.68171350A>G (hg19) chr17:g.70175209A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175209A>G , CM000679.2:g.70175209A>G GRCh38
NC_000017.10:g.68171350A>G , CM000679.1:g.68171350A>G GRCh37
NC_000017.9:g.65682945A>G NCBI36
NG_008798.1:g.10675A>G , LRG_328:g.10675A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.170A>G MANE Select ENSP00000243457.2:p.Gln57Arg
ENST00000243457.3:c.170A>G ENSP00000243457.2:p.Gln57Arg
ENST00000535240.1:c.170A>G ENSP00000441848.1:p.Gln57Arg
NM_000891.2:c.170A>G , LRG_328t1:c.170A>G NP_000882.1:p.Gln57Arg
XM_011524779.1:c.170A>G XP_011523081.1:p.Gln57Arg
NM_000891.3:c.170A>G MANE Select NP_000882.1:p.Gln57Arg
Search 100 bp 5'
Search 100 bp 3'