Canonical Allele Identifier: CA400862449
Gene: KCNJ2 HGNC NCBI

Linked Data

gnomAD v4: 17-70175906-C-G
MyVariant Identifiers: chr17:g.68172047C>G (hg19) chr17:g.70175906C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175906C>G , CM000679.2:g.70175906C>G GRCh38
NC_000017.10:g.68172047C>G , CM000679.1:g.68172047C>G GRCh37
NC_000017.9:g.65683642C>G NCBI36
NG_008798.1:g.11372C>G , LRG_328:g.11372C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.867C>G MANE Select ENSP00000243457.2:p.Asn289Lys
ENST00000243457.3:c.867C>G ENSP00000243457.2:p.Asn289Lys
ENST00000535240.1:c.867C>G ENSP00000441848.1:p.Asn289Lys
NM_000891.2:c.867C>G , LRG_328t1:c.867C>G NP_000882.1:p.Asn289Lys
XM_011524779.1:c.867C>G XP_011523081.1:p.Asn289Lys
NM_000891.3:c.867C>G MANE Select NP_000882.1:p.Asn289Lys
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