Canonical Allele Identifier: CA2685601828

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950144-C-CTGGGGGGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950144_150950145insTGGGGGGGGGGGGGGGGGGGGGGG , CM000669.2:g.150950144_150950145insTGGGGGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000007.13:g.150647232_150647233insTGGGGGGGGGGGGGGGGGGGGGGG , CM000669.1:g.150647232_150647233insTGGGGGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000007.12:g.150278165_150278166insTGGGGGGGGGGGGGGGGGGGGGGG	NCBI36
NG_008916.1:g.32782_32783insCCCCCCCCCCCCCCCCCCCCCCCA , LRG_288:g.32782_32783insCCCCCCCCCCCCCCCCCCCCCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1719_1720insCCCCCCCCCCCCCCCCCCCCCCCA
ENST00000684241.1:n.3231+23_3231+24insCCCCCCCCCCCCCCCCCCCCCCCA
ENST00000262186.10:c.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCA MANE Select	ENSP00000262186.5:n.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000330883.9:c.1378+23_1378+24insCCCCCCCCCCCCCCCCCCCCCCCA	ENSP00000328531.4:n.1378+23_1378+24insCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000262186.9:c.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCA	ENSP00000262186.5:n.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000330883.8:c.1378+23_1378+24insCCCCCCCCCCCCCCCCCCCCCCCA	ENSP00000328531.4:n.1378+23_1378+24insCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000430723.4:c.2073_2074insCCCCCCCCCCCCCCCCCCCCCCCA	ENSP00000387657.4:p.Thr691_Gly692insProProProProProProProPro
ENST00000461280.1:n.1708_1709insCCCCCCCCCCCCCCCCCCCCCCCA
ENST00000473610.5:n.2053_2054insCCCCCCCCCCCCCCCCCCCCCCCA
ENST00000532957.5:n.2644_2645insCCCCCCCCCCCCCCCCCCCCCCCA
NM_000238.3:c.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCA , LRG_288t1:c.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCA	NP_000229.1:n.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCA
NM_001204798.1:c.1401_1402insCCCCCCCCCCCCCCCCCCCCCCCA	NP_001191727.1:p.Thr467_Gly468insProProProProProProProPro
NM_172056.2:c.2421_2422insCCCCCCCCCCCCCCCCCCCCCCCA , LRG_288t2:c.2421_2422insCCCCCCCCCCCCCCCCCCCCCCCA	NP_742053.1:p.Thr807_Gly808insProProProProProProProPro
NM_172057.2:c.1378+23_1378+24insCCCCCCCCCCCCCCCCCCCCCCCA , LRG_288t3:c.1378+23_1378+24insCCCCCCCCCCCCCCCCCCCCCCCA	NP_742054.1:n.1378+23_1378+24insCCCCCCCCCCCCCCCCCCCCCCCA
XM_011516185.1:c.2098+23_2098+24insCCCCCCCCCCCCCCCCCCCCCCCA	XP_011514487.1:n.2098+23_2098+24insCCCCCCCCCCCCCCCCCCCCCCCA
XM_011516186.1:c.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCA	XP_011514488.1:n.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCA
XM_011516185.2:c.2098+23_2098+24insCCCCCCCCCCCCCCCCCCCCCCCA	XP_011514487.1:n.2098+23_2098+24insCCCCCCCCCCCCCCCCCCCCCCCA
XM_011516186.3:c.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCA	XP_011514488.1:n.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCA
XM_017012195.1:c.2248+23_2248+24insCCCCCCCCCCCCCCCCCCCCCCCA	XP_016867684.1:n.2248+23_2248+24insCCCCCCCCCCCCCCCCCCCCCCCA
XM_017012196.1:c.2221+23_2221+24insCCCCCCCCCCCCCCCCCCCCCCCA	XP_016867685.1:n.2221+23_2221+24insCCCCCCCCCCCCCCCCCCCCCCCA
NM_000238.4:c.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCA MANE Select	NP_000229.1:n.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCA
NM_001204798.2:c.1401_1402insCCCCCCCCCCCCCCCCCCCCCCCA	NP_001191727.1:p.Thr467_Gly468insProProProProProProProPro
NM_172057.3:c.1378+23_1378+24insCCCCCCCCCCCCCCCCCCCCCCCA	NP_742054.1:n.1378+23_1378+24insCCCCCCCCCCCCCCCCCCCCCCCA