Canonical Allele Identifier: CA329717

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 67594
• ClinVar RCV Id: RCV000058339 ; RCV000443262 ; RCV001055449 ; RCV002054905 ; RCV003390761
• dbSNP Id: rs199473389
• gnomAD v2: 17-68172114-C-T
• gnomAD v4: 17-70175973-C-T
• COSMIC: COSM6441772
• MyVariant Identifiers: chr17:g.68172114C>T (hg19) ; chr17:g.70175973C>T (hg38)
• PubMed: PMID:12796536 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175973C>T , CM000679.2:g.70175973C>T	GRCh38
NC_000017.10:g.68172114C>T , CM000679.1:g.68172114C>T	GRCh37
NC_000017.9:g.65683709C>T	NCBI36
NG_008798.1:g.11439C>T , LRG_328:g.11439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.934C>T MANE Select	ENSP00000243457.2:p.Arg312Cys
ENST00000243457.3:c.934C>T	ENSP00000243457.2:p.Arg312Cys
ENST00000535240.1:c.934C>T	ENSP00000441848.1:p.Arg312Cys
NM_000891.2:c.934C>T , LRG_328t1:c.934C>T	NP_000882.1:p.Arg312Cys
XM_011524779.1:c.934C>T	XP_011523081.1:p.Arg312Cys
NM_000891.3:c.934C>T MANE Select	NP_000882.1:p.Arg312Cys