Canonical Allele Identifier: CA10640423

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 324897
• ClinVar RCV Id: RCV000270731 ; RCV000310797 ; RCV000363197 ; RCV002480157
• dbSNP Id: rs529969829
• gnomAD v2: 17-68176000-C-T
• gnomAD v3: 17-70179859-C-T
• gnomAD v4: 17-70179859-C-T
• MyVariant Identifiers: chr17:g.68176000C>T (hg19) ; chr17:g.70179859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70179859C>T , CM000679.2:g.70179859C>T	GRCh38
NC_000017.10:g.68176000C>T , CM000679.1:g.68176000C>T	GRCh37
NC_000017.9:g.65687595C>T	NCBI36
NG_008798.1:g.15325C>T , LRG_328:g.15325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.*3536C>T MANE Select	ENSP00000243457.2:n.*3536C>T
ENST00000243457.3:c.*3536C>T	ENSP00000243457.2:n.*3536C>T
NM_000891.2:c.*3536C>T , LRG_328t1:c.*3536C>T	NP_000882.1:n.*3536C>T
NM_000891.3:c.*3536C>T MANE Select	NP_000882.1:n.*3536C>T