Canonical Allele Identifier: CA2573052836

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1331999
• ClinVar RCV Id: RCV001842175
• dbSNP Id: rs2116937780

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948463_150948464delinsAT , CM000669.2:g.150948463_150948464delinsAT	GRCh38
NC_000007.13:g.150645551_150645552delinsAT , CM000669.1:g.150645551_150645552delinsAT	GRCh37
NC_000007.12:g.150276484_150276485delinsAT	NCBI36
NG_008916.1:g.34463_34464delinsAT , LRG_288:g.34463_34464delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3505_3506delinsAT
ENST00000262186.10:c.2672_2673delinsAT MANE Select	ENSP00000262186.5:p.Phe891Tyr
ENST00000330883.9:c.1652_1653delinsAT	ENSP00000328531.4:p.Phe551Tyr
ENST00000262186.9:c.2672_2673delinsAT	ENSP00000262186.5:p.Phe891Tyr
ENST00000330883.8:c.1652_1653delinsAT	ENSP00000328531.4:p.Phe551Tyr
NM_000238.3:c.2672_2673delinsAT , LRG_288t1:c.2672_2673delinsAT	NP_000229.1:p.Phe891Tyr
NM_172057.2:c.1652_1653delinsAT , LRG_288t3:c.1652_1653delinsAT	NP_742054.1:p.Phe551Tyr
XM_011516185.1:c.2372_2373delinsAT	XP_011514487.1:p.Phe791Tyr
XM_011516186.1:c.2672_2673delinsAT	XP_011514488.1:p.Phe891Tyr
XM_011516185.2:c.2372_2373delinsAT	XP_011514487.1:p.Phe791Tyr
XM_011516186.3:c.2672_2673delinsAT	XP_011514488.1:p.Phe891Tyr
XM_017012195.1:c.2522_2523delinsAT	XP_016867684.1:p.Phe841Tyr
XM_017012196.1:c.2495_2496delinsAT	XP_016867685.1:p.Phe832Tyr
NM_000238.4:c.2672_2673delinsAT MANE Select	NP_000229.1:p.Phe891Tyr
NM_172057.3:c.1652_1653delinsAT	NP_742054.1:p.Phe551Tyr