Canonical Allele Identifier: CA2685606189

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950988-A-AGGGGATT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950995_150951001dup , CM000669.2:g.150950995_150951001dup	GRCh38
NC_000007.13:g.150648083_150648089dup , CM000669.1:g.150648083_150648089dup	GRCh37
NC_000007.12:g.150279016_150279022dup	NCBI36
NG_008916.1:g.31932_31938dup , LRG_288:g.31932_31938dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1369_1375dup
ENST00000683359.1:n.195_201dup
ENST00000684241.1:n.2904_2910dup
ENST00000262186.10:c.2071_2077dup MANE Select	ENSP00000262186.5:p.Leu693GlnfsTer32
ENST00000330883.9:c.1051_1057dup	ENSP00000328531.4:p.Leu353GlnfsTer32
ENST00000262186.9:c.2071_2077dup	ENSP00000262186.5:p.Leu693GlnfsTer32
ENST00000330883.8:c.1051_1057dup	ENSP00000328531.4:p.Leu353GlnfsTer32
ENST00000430723.4:c.1723_1729dup	ENSP00000387657.4:p.Leu577GlnfsTer32
ENST00000461280.1:n.1358_1364dup
ENST00000473610.5:n.1703_1709dup
ENST00000532957.5:n.2294_2300dup
NM_000238.3:c.2071_2077dup , LRG_288t1:c.2071_2077dup	NP_000229.1:p.Leu693GlnfsTer32
NM_001204798.1:c.1051_1057dup	NP_001191727.1:p.Leu353GlnfsTer32
NM_172056.2:c.2071_2077dup , LRG_288t2:c.2071_2077dup	NP_742053.1:p.Leu693GlnfsTer32
NM_172057.2:c.1051_1057dup , LRG_288t3:c.1051_1057dup	NP_742054.1:p.Leu353GlnfsTer32
XM_011516185.1:c.1771_1777dup	XP_011514487.1:p.Leu593GlnfsTer32
XM_011516186.1:c.2071_2077dup	XP_011514488.1:p.Leu693GlnfsTer32
XM_011516185.2:c.1771_1777dup	XP_011514487.1:p.Leu593GlnfsTer32
XM_011516186.3:c.2071_2077dup	XP_011514488.1:p.Leu693GlnfsTer32
XM_017012195.1:c.1921_1927dup	XP_016867684.1:p.Leu643GlnfsTer32
XM_017012196.1:c.1894_1900dup	XP_016867685.1:p.Leu634GlnfsTer32
NM_000238.4:c.2071_2077dup MANE Select	NP_000229.1:p.Leu693GlnfsTer32
NM_001204798.2:c.1051_1057dup	NP_001191727.1:p.Leu353GlnfsTer32
NM_172057.3:c.1051_1057dup	NP_742054.1:p.Leu353GlnfsTer32