Canonical Allele Identifier: CA2695208718

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951492del , CM000669.2:g.150951492del	GRCh38
NC_000007.13:g.150648580del , CM000669.1:g.150648580del	GRCh37
NC_000007.12:g.150279513del	NCBI36
NG_008916.1:g.31436del , LRG_288:g.31436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1200del
ENST00000683359.1:n.26del
ENST00000684241.1:n.2735del
ENST00000262186.10:c.1902del MANE Select	ENSP00000262186.5:p.Asn635ThrfsTer?
ENST00000330883.9:c.882del	ENSP00000328531.4:p.Asn295ThrfsTer?
ENST00000262186.9:c.1902del	ENSP00000262186.5:p.Asn635ThrfsTer?
ENST00000330883.8:c.882del	ENSP00000328531.4:p.Asn295ThrfsTer?
ENST00000430723.4:c.1554del	ENSP00000387657.4:p.Asn519ThrfsTer?
ENST00000461280.1:n.1189del
ENST00000473610.5:n.1207del
ENST00000532957.5:n.2125del
NM_000238.3:c.1902del , LRG_288t1:c.1902del	NP_000229.1:p.Asn635ThrfsTer?
NM_001204798.1:c.882del	NP_001191727.1:p.Asn295ThrfsTer?
NM_172056.2:c.1902del , LRG_288t2:c.1902del	NP_742053.1:p.Asn635ThrfsTer?
NM_172057.2:c.882del , LRG_288t3:c.882del	NP_742054.1:p.Asn295ThrfsTer?
XM_011516185.1:c.1602del	XP_011514487.1:p.Asn535ThrfsTer?
XM_011516186.1:c.1902del	XP_011514488.1:p.Asn635ThrfsTer?
XM_011516185.2:c.1602del	XP_011514487.1:p.Asn535ThrfsTer?
XM_011516186.3:c.1902del	XP_011514488.1:p.Asn635ThrfsTer?
XM_017012195.1:c.1752del	XP_016867684.1:p.Asn585ThrfsTer?
XM_017012196.1:c.1725del	XP_016867685.1:p.Asn576ThrfsTer?
NM_000238.4:c.1902del MANE Select	NP_000229.1:p.Asn635ThrfsTer?
NM_001204798.2:c.882del	NP_001191727.1:p.Asn295ThrfsTer?
NM_172057.3:c.882del	NP_742054.1:p.Asn295ThrfsTer?