Canonical Allele Identifier: CA293703236
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 890537
ClinVar RCV Id: RCV001125198 RCV001126176 RCV001126177
dbSNP Id: rs548485707
gnomAD v3: 17-70179355-A-G
gnomAD v4: 17-70179355-A-G
MyVariant Identifiers: chr17:g.68175496A>G (hg19) chr17:g.70179355A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70179355A>G , CM000679.2:g.70179355A>G GRCh38
NC_000017.10:g.68175496A>G , CM000679.1:g.68175496A>G GRCh37
NC_000017.9:g.65687091A>G NCBI36
NG_008798.1:g.14821A>G , LRG_328:g.14821A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.*3032A>G MANE Select ENSP00000243457.2:n.*3032A>G
ENST00000243457.3:c.*3032A>G ENSP00000243457.2:n.*3032A>G
NM_000891.2:c.*3032A>G , LRG_328t1:c.*3032A>G NP_000882.1:n.*3032A>G
NM_000891.3:c.*3032A>G MANE Select NP_000882.1:n.*3032A>G
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