Canonical Allele Identifier: CA2778425827

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950163_150950164insCAA , CM000669.2:g.150950163_150950164insCAA	GRCh38
NC_000007.13:g.150647251_150647252insCAA , CM000669.1:g.150647251_150647252insCAA	GRCh37
NC_000007.12:g.150278184_150278185insCAA	NCBI36
NG_008916.1:g.32763_32764insTTG , LRG_288:g.32763_32764insTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1700_1701insTTG
ENST00000684241.1:n.3231+4_3231+5insTTG
ENST00000262186.10:c.2398+4_2398+5insTTG MANE Select	ENSP00000262186.5:n.2398+4_2398+5insTTG
ENST00000330883.9:c.1378+4_1378+5insTTG	ENSP00000328531.4:n.1378+4_1378+5insTTG
ENST00000262186.9:c.2398+4_2398+5insTTG	ENSP00000262186.5:n.2398+4_2398+5insTTG
ENST00000330883.8:c.1378+4_1378+5insTTG	ENSP00000328531.4:n.1378+4_1378+5insTTG
ENST00000430723.4:c.2054_2055insTTG	ENSP00000387657.4:p.Met685delinsIleTrp
ENST00000461280.1:n.1689_1690insTTG
ENST00000473610.5:n.2034_2035insTTG
ENST00000532957.5:n.2625_2626insTTG
NM_000238.3:c.2398+4_2398+5insTTG , LRG_288t1:c.2398+4_2398+5insTTG	NP_000229.1:n.2398+4_2398+5insTTG
NM_001204798.1:c.1382_1383insTTG	NP_001191727.1:p.Met461delinsIleTrp
NM_172056.2:c.2402_2403insTTG , LRG_288t2:c.2402_2403insTTG	NP_742053.1:p.Met801delinsIleTrp
NM_172057.2:c.1378+4_1378+5insTTG , LRG_288t3:c.1378+4_1378+5insTTG	NP_742054.1:n.1378+4_1378+5insTTG
XM_011516185.1:c.2098+4_2098+5insTTG	XP_011514487.1:n.2098+4_2098+5insTTG
XM_011516186.1:c.2398+4_2398+5insTTG	XP_011514488.1:n.2398+4_2398+5insTTG
XM_011516185.2:c.2098+4_2098+5insTTG	XP_011514487.1:n.2098+4_2098+5insTTG
XM_011516186.3:c.2398+4_2398+5insTTG	XP_011514488.1:n.2398+4_2398+5insTTG
XM_017012195.1:c.2248+4_2248+5insTTG	XP_016867684.1:n.2248+4_2248+5insTTG
XM_017012196.1:c.2221+4_2221+5insTTG	XP_016867685.1:n.2221+4_2221+5insTTG
NM_000238.4:c.2398+4_2398+5insTTG MANE Select	NP_000229.1:n.2398+4_2398+5insTTG
NM_001204798.2:c.1382_1383insTTG	NP_001191727.1:p.Met461delinsIleTrp
NM_172057.3:c.1378+4_1378+5insTTG	NP_742054.1:n.1378+4_1378+5insTTG