Canonical Allele Identifier: CA10649991

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 324885
• ClinVar RCV Id: RCV000275920 ; RCV000331057 ; RCV000388937
• dbSNP Id: rs886053343
• gnomAD v3: 17-70179098-TG-T
• gnomAD v4: 17-70179098-TG-T
• MyVariant Identifiers: chr17:g.68175240del (hg19) ; chr17:g.70179099del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70179099del , CM000679.2:g.70179099del	GRCh38
NC_000017.10:g.68175240del , CM000679.1:g.68175240del	GRCh37
NC_000017.9:g.65686835del	NCBI36
NG_008798.1:g.14565del , LRG_328:g.14565del

Transcript Alleles

HGVS	Amino-acid change
ENST00000243457.4:c.*2776del MANE Select	ENSP00000243457.2:n.*2776del
ENST00000243457.3:c.*2776del	ENSP00000243457.2:n.*2776del
NM_000891.2:c.*2776del , LRG_328t1:c.*2776del	NP_000882.1:n.*2776del
NM_000891.3:c.*2776del MANE Select	NP_000882.1:n.*2776del