Canonical Allele Identifier: CA329699

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 67585
• ClinVar RCV Id: RCV000058327 ; RCV000157273 ; RCV000255682 ; RCV000791452 ; RCV002362693 ; RCV002483105
• dbSNP Id: rs199473384
• COSMIC: COSM269418
• MyVariant Identifiers: chr17:g.68171833G>A (hg19) ; chr17:g.70175692G>A (hg38)
• PubMed: PMID:11371347 ; PMID:12163457 ; PMID:17211524 ; PMID:17221872 ; PMID:22002906 ; PMID:22581653 ; PMID:23644778

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175692G>A , CM000679.2:g.70175692G>A	GRCh38
NC_000017.10:g.68171833G>A , CM000679.1:g.68171833G>A	GRCh37
NC_000017.9:g.65683428G>A	NCBI36
NG_008798.1:g.11158G>A , LRG_328:g.11158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.653G>A MANE Select	ENSP00000243457.2:p.Arg218Gln
ENST00000243457.3:c.653G>A	ENSP00000243457.2:p.Arg218Gln
ENST00000535240.1:c.653G>A	ENSP00000441848.1:p.Arg218Gln
NM_000891.2:c.653G>A , LRG_328t1:c.653G>A	NP_000882.1:p.Arg218Gln
XM_011524779.1:c.653G>A	XP_011523081.1:p.Arg218Gln
NM_000891.3:c.653G>A MANE Select	NP_000882.1:p.Arg218Gln