Canonical Allele Identifier: CA10640384

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 324838
• ClinVar RCV Id: RCV000278444 ; RCV000332277 ; RCV000389222 ; RCV002480155
• dbSNP Id: rs886053326
• gnomAD v2: 17-68172677-G-A
• gnomAD v3: 17-70176536-G-A
• gnomAD v4: 17-70176536-G-A
• MyVariant Identifiers: chr17:g.68172677G>A (hg19) ; chr17:g.70176536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70176536G>A , CM000679.2:g.70176536G>A	GRCh38
NC_000017.10:g.68172677G>A , CM000679.1:g.68172677G>A	GRCh37
NC_000017.9:g.65684272G>A	NCBI36
NG_008798.1:g.12002G>A , LRG_328:g.12002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.*213G>A MANE Select	ENSP00000243457.2:n.*213G>A
ENST00000243457.3:c.*213G>A	ENSP00000243457.2:n.*213G>A
NM_000891.2:c.*213G>A , LRG_328t1:c.*213G>A	NP_000882.1:n.*213G>A
XM_011524779.1:c.*213G>A	XP_011523081.1:n.*213G>A
NM_000891.3:c.*213G>A MANE Select	NP_000882.1:n.*213G>A