Canonical Allele Identifier: CA2580077775

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2167406
• ClinVar RCV Id: RCV003099031

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948445_150948446delinsTG , CM000669.2:g.150948445_150948446delinsTG	GRCh38
NC_000007.13:g.150645533_150645534delinsTG , CM000669.1:g.150645533_150645534delinsTG	GRCh37
NC_000007.12:g.150276466_150276467delinsTG	NCBI36
NG_008916.1:g.34481_34482delinsCA , LRG_288:g.34481_34482delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3523_3524delinsCA
ENST00000262186.10:c.2690_2691delinsCA MANE Select	ENSP00000262186.5:p.Lys897Thr
ENST00000330883.9:c.1670_1671delinsCA	ENSP00000328531.4:p.Lys557Thr
ENST00000262186.9:c.2690_2691delinsCA	ENSP00000262186.5:p.Lys897Thr
ENST00000330883.8:c.1670_1671delinsCA	ENSP00000328531.4:p.Lys557Thr
NM_000238.3:c.2690_2691delinsCA , LRG_288t1:c.2690_2691delinsCA	NP_000229.1:p.Lys897Thr
NM_172057.2:c.1670_1671delinsCA , LRG_288t3:c.1670_1671delinsCA	NP_742054.1:p.Lys557Thr
XM_011516185.1:c.2390_2391delinsCA	XP_011514487.1:p.Lys797Thr
XM_011516186.1:c.2690_2691delinsCA	XP_011514488.1:p.Lys897Thr
XM_011516185.2:c.2390_2391delinsCA	XP_011514487.1:p.Lys797Thr
XM_011516186.3:c.2690_2691delinsCA	XP_011514488.1:p.Lys897Thr
XM_017012195.1:c.2540_2541delinsCA	XP_016867684.1:p.Lys847Thr
XM_017012196.1:c.2513_2514delinsCA	XP_016867685.1:p.Lys838Thr
NM_000238.4:c.2690_2691delinsCA MANE Select	NP_000229.1:p.Lys897Thr
NM_172057.3:c.1670_1671delinsCA	NP_742054.1:p.Lys557Thr