Canonical Allele Identifier: CA400859793
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2149616
ClinVar RCV Id: RCV003065573
dbSNP Id: rs1441314140
gnomAD v4: 17-70175109-A-G
MyVariant Identifiers: chr17:g.68171250A>G (hg19) chr17:g.70175109A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175109A>G , CM000679.2:g.70175109A>G GRCh38
NC_000017.10:g.68171250A>G , CM000679.1:g.68171250A>G GRCh37
NC_000017.9:g.65682845A>G NCBI36
NG_008798.1:g.10575A>G , LRG_328:g.10575A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.70A>G MANE Select ENSP00000243457.2:p.Met24Val
ENST00000243457.3:c.70A>G ENSP00000243457.2:p.Met24Val
ENST00000535240.1:c.70A>G ENSP00000441848.1:p.Met24Val
NM_000891.2:c.70A>G , LRG_328t1:c.70A>G NP_000882.1:p.Met24Val
XM_011524779.1:c.70A>G XP_011523081.1:p.Met24Val
NM_000891.3:c.70A>G MANE Select NP_000882.1:p.Met24Val
Search 100 bp 5'
Search 100 bp 3'