Canonical Allele Identifier: CA400860046
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1420341
ClinVar RCV Id: RCV001914205 RCV002223328
dbSNP Id: rs1484750176
gnomAD v3: 17-70175218-A-G
gnomAD v4: 17-70175218-A-G
MyVariant Identifiers: chr17:g.68171359A>G (hg19) chr17:g.70175218A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175218A>G , CM000679.2:g.70175218A>G GRCh38
NC_000017.10:g.68171359A>G , CM000679.1:g.68171359A>G GRCh37
NC_000017.9:g.65682954A>G NCBI36
NG_008798.1:g.10684A>G , LRG_328:g.10684A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.179A>G MANE Select ENSP00000243457.2:p.Asn60Ser
ENST00000243457.3:c.179A>G ENSP00000243457.2:p.Asn60Ser
ENST00000535240.1:c.179A>G ENSP00000441848.1:p.Asn60Ser
NM_000891.2:c.179A>G , LRG_328t1:c.179A>G NP_000882.1:p.Asn60Ser
XM_011524779.1:c.179A>G XP_011523081.1:p.Asn60Ser
NM_000891.3:c.179A>G MANE Select NP_000882.1:p.Asn60Ser
Search 100 bp 5'
Search 100 bp 3'