Canonical Allele Identifier: CA1752434650

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951202_150951206delinsGGTCA , CM000669.2:g.150951202_150951206delinsGGTCA	GRCh38
NC_000007.13:g.150648290_150648294delinsGGTCA , CM000669.1:g.150648290_150648294delinsGGTCA	GRCh37
NC_000007.12:g.150279223_150279227delinsGGTCA	NCBI36
NG_008916.1:g.31721_31725delinsTGACC , LRG_288:g.31721_31725delinsTGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1244-86_1244-82delinsTGACC
ENST00000683359.1:n.70-86_70-82delinsTGACC
ENST00000684241.1:n.2779-86_2779-82delinsTGACC
ENST00000262186.10:c.1946-86_1946-82delinsTGACC MANE Select	ENSP00000262186.5:n.1946-86_1946-82delinsTGACC
ENST00000330883.9:c.926-86_926-82delinsTGACC	ENSP00000328531.4:n.926-86_926-82delinsTGACC
ENST00000262186.9:c.1946-86_1946-82delinsTGACC	ENSP00000262186.5:n.1946-86_1946-82delinsTGACC
ENST00000330883.8:c.926-86_926-82delinsTGACC	ENSP00000328531.4:n.926-86_926-82delinsTGACC
ENST00000430723.4:c.1598-86_1598-82delinsTGACC	ENSP00000387657.4:n.1598-86_1598-82delinsTGACC
ENST00000461280.1:n.1233-86_1233-82delinsTGACC
ENST00000473610.5:n.1492_1496delinsTGACC
ENST00000532957.5:n.2169-86_2169-82delinsTGACC
NM_000238.3:c.1946-86_1946-82delinsTGACC , LRG_288t1:c.1946-86_1946-82delinsTGACC	NP_000229.1:n.1946-86_1946-82delinsTGACC
NM_001204798.1:c.926-86_926-82delinsTGACC	NP_001191727.1:n.926-86_926-82delinsTGACC
NM_172056.2:c.1946-86_1946-82delinsTGACC , LRG_288t2:c.1946-86_1946-82delinsTGACC	NP_742053.1:n.1946-86_1946-82delinsTGACC
NM_172057.2:c.926-86_926-82delinsTGACC , LRG_288t3:c.926-86_926-82delinsTGACC	NP_742054.1:n.926-86_926-82delinsTGACC
XM_011516185.1:c.1646-86_1646-82delinsTGACC	XP_011514487.1:n.1646-86_1646-82delinsTGACC
XM_011516186.1:c.1946-86_1946-82delinsTGACC	XP_011514488.1:n.1946-86_1946-82delinsTGACC
XM_011516185.2:c.1646-86_1646-82delinsTGACC	XP_011514487.1:n.1646-86_1646-82delinsTGACC
XM_011516186.3:c.1946-86_1946-82delinsTGACC	XP_011514488.1:n.1946-86_1946-82delinsTGACC
XM_017012195.1:c.1796-86_1796-82delinsTGACC	XP_016867684.1:n.1796-86_1796-82delinsTGACC
XM_017012196.1:c.1769-86_1769-82delinsTGACC	XP_016867685.1:n.1769-86_1769-82delinsTGACC
NM_000238.4:c.1946-86_1946-82delinsTGACC MANE Select	NP_000229.1:n.1946-86_1946-82delinsTGACC
NM_001204798.2:c.926-86_926-82delinsTGACC	NP_001191727.1:n.926-86_926-82delinsTGACC
NM_172057.3:c.926-86_926-82delinsTGACC	NP_742054.1:n.926-86_926-82delinsTGACC