Canonical Allele Identifier: CA2573141873

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1457690
• ClinVar RCV Id: RCV001972696
• dbSNP Id: rs2116971722

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952678_150952684del , CM000669.2:g.150952678_150952684del	GRCh38
NC_000007.13:g.150649766_150649772del , CM000669.1:g.150649766_150649772del	GRCh37
NC_000007.12:g.150280699_150280705del	NCBI36
NG_008916.1:g.30243_30249del , LRG_288:g.30243_30249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.596_602del
ENST00000684116.1:n.191_197del
ENST00000684241.1:n.2131_2137del
ENST00000262186.10:c.1298_1304del MANE Select	ENSP00000262186.5:p.Leu433ArgfsTer?
ENST00000330883.9:c.278_284del	ENSP00000328531.4:p.Leu93ArgfsTer?
ENST00000262186.9:c.1298_1304del	ENSP00000262186.5:p.Leu433ArgfsTer?
ENST00000330883.8:c.278_284del	ENSP00000328531.4:p.Leu93ArgfsTer?
ENST00000430723.4:c.950_956del	ENSP00000387657.4:p.Leu317ArgfsTer?
ENST00000461280.1:n.585_591del
ENST00000473610.5:n.603_609del
ENST00000532957.5:n.1521_1527del
NM_000238.3:c.1298_1304del , LRG_288t1:c.1298_1304del	NP_000229.1:p.Leu433ArgfsTer?
NM_001204798.1:c.278_284del	NP_001191727.1:p.Leu93ArgfsTer?
NM_172056.2:c.1298_1304del , LRG_288t2:c.1298_1304del	NP_742053.1:p.Leu433ArgfsTer?
NM_172057.2:c.278_284del , LRG_288t3:c.278_284del	NP_742054.1:p.Leu93ArgfsTer?
XM_011516185.1:c.998_1004del	XP_011514487.1:p.Leu333ArgfsTer?
XM_011516186.1:c.1298_1304del	XP_011514488.1:p.Leu433ArgfsTer?
XM_011516185.2:c.998_1004del	XP_011514487.1:p.Leu333ArgfsTer?
XM_011516186.3:c.1298_1304del	XP_011514488.1:p.Leu433ArgfsTer?
XM_017012195.1:c.1148_1154del	XP_016867684.1:p.Leu383ArgfsTer?
XM_017012196.1:c.1121_1127del	XP_016867685.1:p.Leu374ArgfsTer?
NM_000238.4:c.1298_1304del MANE Select	NP_000229.1:p.Leu433ArgfsTer?
NM_001204798.2:c.278_284del	NP_001191727.1:p.Leu93ArgfsTer?
NM_172057.3:c.278_284del	NP_742054.1:p.Leu93ArgfsTer?