Canonical Allele Identifier: CA1752432030

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948991_150948992delinsGT , CM000669.2:g.150948991_150948992delinsGT	GRCh38
NC_000007.13:g.150646079_150646080delinsGT , CM000669.1:g.150646079_150646080delinsGT	GRCh37
NC_000007.12:g.150277012_150277013delinsGT	NCBI36
NG_008916.1:g.33935_33936delinsAC , LRG_288:g.33935_33936delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3289_3290delinsAC
ENST00000262186.10:c.2456_2457delinsAC MANE Select	ENSP00000262186.5:p.Asn819=
ENST00000330883.9:c.1436_1437delinsAC	ENSP00000328531.4:p.Asn479=
ENST00000262186.9:c.2456_2457delinsAC	ENSP00000262186.5:p.Asn819=
ENST00000330883.8:c.1436_1437delinsAC	ENSP00000328531.4:p.Asn479=
NM_000238.3:c.2456_2457delinsAC , LRG_288t1:c.2456_2457delinsAC	NP_000229.1:p.Asn819=
NM_172057.2:c.1436_1437delinsAC , LRG_288t3:c.1436_1437delinsAC	NP_742054.1:p.Asn479=
XM_011516185.1:c.2156_2157delinsAC	XP_011514487.1:p.Asn719=
XM_011516186.1:c.2456_2457delinsAC	XP_011514488.1:p.Asn819=
XM_011516185.2:c.2156_2157delinsAC	XP_011514487.1:p.Asn719=
XM_011516186.3:c.2456_2457delinsAC	XP_011514488.1:p.Asn819=
XM_017012195.1:c.2306_2307delinsAC	XP_016867684.1:p.Asn769=
XM_017012196.1:c.2279_2280delinsAC	XP_016867685.1:p.Asn760=
NM_000238.4:c.2456_2457delinsAC MANE Select	NP_000229.1:p.Asn819=
NM_172057.3:c.1436_1437delinsAC	NP_742054.1:p.Asn479=