Canonical Allele Identifier: CA2778425505

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948489_150948490insGCGACC , CM000669.2:g.150948489_150948490insGCGACC	GRCh38
NC_000007.13:g.150645577_150645578insGCGACC , CM000669.1:g.150645577_150645578insGCGACC	GRCh37
NC_000007.12:g.150276510_150276511insGCGACC	NCBI36
NG_008916.1:g.34437_34438insGGTCGC , LRG_288:g.34437_34438insGGTCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3479_3480insGGTCGC
ENST00000262186.10:c.2646_2647insGGTCGC MANE Select	ENSP00000262186.5:p.Ser882_Arg883insGlyArg
ENST00000330883.9:c.1626_1627insGGTCGC	ENSP00000328531.4:p.Ser542_Arg543insGlyArg
ENST00000262186.9:c.2646_2647insGGTCGC	ENSP00000262186.5:p.Ser882_Arg883insGlyArg
ENST00000330883.8:c.1626_1627insGGTCGC	ENSP00000328531.4:p.Ser542_Arg543insGlyArg
NM_000238.3:c.2646_2647insGGTCGC , LRG_288t1:c.2646_2647insGGTCGC	NP_000229.1:p.Ser882_Arg883insGlyArg
NM_172057.2:c.1626_1627insGGTCGC , LRG_288t3:c.1626_1627insGGTCGC	NP_742054.1:p.Ser542_Arg543insGlyArg
XM_011516185.1:c.2346_2347insGGTCGC	XP_011514487.1:p.Ser782_Arg783insGlyArg
XM_011516186.1:c.2646_2647insGGTCGC	XP_011514488.1:p.Ser882_Arg883insGlyArg
XM_011516185.2:c.2346_2347insGGTCGC	XP_011514487.1:p.Ser782_Arg783insGlyArg
XM_011516186.3:c.2646_2647insGGTCGC	XP_011514488.1:p.Ser882_Arg883insGlyArg
XM_017012195.1:c.2496_2497insGGTCGC	XP_016867684.1:p.Ser832_Arg833insGlyArg
XM_017012196.1:c.2469_2470insGGTCGC	XP_016867685.1:p.Ser823_Arg824insGlyArg
NM_000238.4:c.2646_2647insGGTCGC MANE Select	NP_000229.1:p.Ser882_Arg883insGlyArg
NM_172057.3:c.1626_1627insGGTCGC	NP_742054.1:p.Ser542_Arg543insGlyArg