Canonical Allele Identifier: CA349833

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 219562
• ClinVar RCV Id: RCV000205717 ; RCV000599424 ; RCV002453735
• dbSNP Id: rs864622157
• MyVariant Identifiers: chr7:g.150656782_150656784del (hg19) ; chr7:g.150959694_150959696del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959697_150959699del , CM000669.2:g.150959697_150959699del	GRCh38
NC_000007.13:g.150656785_150656787del , CM000669.1:g.150656785_150656787del	GRCh37
NC_000007.12:g.150287718_150287720del	NCBI36
NG_008916.1:g.23231_23233del , LRG_288:g.23231_23233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1181_1183del
ENST00000262186.10:c.348_350del MANE Select	ENSP00000262186.5:p.Lys116del
ENST00000262186.9:c.348_350del	ENSP00000262186.5:p.Lys116del
ENST00000430723.4:c.171_173del	ENSP00000387657.4:p.Lys57del
ENST00000532957.5:n.571_573del
NM_000238.3:c.348_350del , LRG_288t1:c.348_350del	NP_000229.1:p.Lys116del
NM_172056.2:c.348_350del , LRG_288t2:c.348_350del	NP_742053.1:p.Lys116del
XM_011516185.1:c.48_50del	XP_011514487.1:p.Lys16del
XM_011516186.1:c.348_350del	XP_011514488.1:p.Lys116del
XM_011516185.2:c.48_50del	XP_011514487.1:p.Lys16del
XM_011516186.3:c.348_350del	XP_011514488.1:p.Lys116del
XM_017012195.1:c.198_200del	XP_016867684.1:p.Lys66del
XM_017012196.1:c.171_173del	XP_016867685.1:p.Lys57del
NM_000238.4:c.348_350del MANE Select	NP_000229.1:p.Lys116del