Canonical Allele Identifier: CA2573141854

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1455493
• ClinVar RCV Id: RCV001946622
• dbSNP Id: rs2116937500

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948452del , CM000669.2:g.150948452del	GRCh38
NC_000007.13:g.150645540del , CM000669.1:g.150645540del	GRCh37
NC_000007.12:g.150276473del	NCBI36
NG_008916.1:g.34475del , LRG_288:g.34475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3517del
ENST00000262186.10:c.2684del MANE Select	ENSP00000262186.5:p.Thr895ArgfsTer?
ENST00000330883.9:c.1664del	ENSP00000328531.4:p.Thr555ArgfsTer?
ENST00000262186.9:c.2684del	ENSP00000262186.5:p.Thr895ArgfsTer?
ENST00000330883.8:c.1664del	ENSP00000328531.4:p.Thr555ArgfsTer?
NM_000238.3:c.2684del , LRG_288t1:c.2684del	NP_000229.1:p.Thr895ArgfsTer?
NM_172057.2:c.1664del , LRG_288t3:c.1664del	NP_742054.1:p.Thr555ArgfsTer?
XM_011516185.1:c.2384del	XP_011514487.1:p.Thr795ArgfsTer?
XM_011516186.1:c.2684del	XP_011514488.1:p.Thr895ArgfsTer?
XM_011516185.2:c.2384del	XP_011514487.1:p.Thr795ArgfsTer?
XM_011516186.3:c.2684del	XP_011514488.1:p.Thr895ArgfsTer?
XM_017012195.1:c.2534del	XP_016867684.1:p.Thr845ArgfsTer?
XM_017012196.1:c.2507del	XP_016867685.1:p.Thr836ArgfsTer?
NM_000238.4:c.2684del MANE Select	NP_000229.1:p.Thr895ArgfsTer?
NM_172057.3:c.1664del	NP_742054.1:p.Thr555ArgfsTer?