Canonical Allele Identifier: CA400862105
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1677696
ClinVar RCV Id: RCV002224438
dbSNP Id: rs1598211406
MyVariant Identifiers: chr17:g.68171974C>G (hg19) chr17:g.70175833C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175833C>G , CM000679.2:g.70175833C>G GRCh38
NC_000017.10:g.68171974C>G , CM000679.1:g.68171974C>G GRCh37
NC_000017.9:g.65683569C>G NCBI36
NG_008798.1:g.11299C>G , LRG_328:g.11299C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.794C>G MANE Select ENSP00000243457.2:p.Ser265Cys
ENST00000243457.3:c.794C>G ENSP00000243457.2:p.Ser265Cys
ENST00000535240.1:c.794C>G ENSP00000441848.1:p.Ser265Cys
NM_000891.2:c.794C>G , LRG_328t1:c.794C>G NP_000882.1:p.Ser265Cys
XM_011524779.1:c.794C>G XP_011523081.1:p.Ser265Cys
NM_000891.3:c.794C>G MANE Select NP_000882.1:p.Ser265Cys
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