Canonical Allele Identifier: CA2580077776

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2098521
• ClinVar RCV Id: RCV003030993

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948449_150948475del , CM000669.2:g.150948449_150948475del	GRCh38
NC_000007.13:g.150645537_150645563del , CM000669.1:g.150645537_150645563del	GRCh37
NC_000007.12:g.150276470_150276496del	NCBI36
NG_008916.1:g.34456_34482del , LRG_288:g.34456_34482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3498_3524del
ENST00000262186.10:c.2665_2691del MANE Select	ENSP00000262186.5:p.Leu889_Lys897del
ENST00000330883.9:c.1645_1671del	ENSP00000328531.4:p.Leu549_Lys557del
ENST00000262186.9:c.2665_2691del	ENSP00000262186.5:p.Leu889_Lys897del
ENST00000330883.8:c.1645_1671del	ENSP00000328531.4:p.Leu549_Lys557del
NM_000238.3:c.2665_2691del , LRG_288t1:c.2665_2691del	NP_000229.1:p.Leu889_Lys897del
NM_172057.2:c.1645_1671del , LRG_288t3:c.1645_1671del	NP_742054.1:p.Leu549_Lys557del
XM_011516185.1:c.2365_2391del	XP_011514487.1:p.Leu789_Lys797del
XM_011516186.1:c.2665_2691del	XP_011514488.1:p.Leu889_Lys897del
XM_011516185.2:c.2365_2391del	XP_011514487.1:p.Leu789_Lys797del
XM_011516186.3:c.2665_2691del	XP_011514488.1:p.Leu889_Lys897del
XM_017012195.1:c.2515_2541del	XP_016867684.1:p.Leu839_Lys847del
XM_017012196.1:c.2488_2514del	XP_016867685.1:p.Leu830_Lys838del
NM_000238.4:c.2665_2691del MANE Select	NP_000229.1:p.Leu889_Lys897del
NM_172057.3:c.1645_1671del	NP_742054.1:p.Leu549_Lys557del