Canonical Allele Identifier: CA2685600500

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948481-G-GCGTTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948484_150948489dup , CM000669.2:g.150948484_150948489dup	GRCh38
NC_000007.13:g.150645572_150645577dup , CM000669.1:g.150645572_150645577dup	GRCh37
NC_000007.12:g.150276505_150276510dup	NCBI36
NG_008916.1:g.34440_34445dup , LRG_288:g.34440_34445dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3482_3487dup
ENST00000262186.10:c.2649_2654dup MANE Select	ENSP00000262186.5:p.Arg885_Lys886insGlnArg
ENST00000330883.9:c.1629_1634dup	ENSP00000328531.4:p.Arg545_Lys546insGlnArg
ENST00000262186.9:c.2649_2654dup	ENSP00000262186.5:p.Arg885_Lys886insGlnArg
ENST00000330883.8:c.1629_1634dup	ENSP00000328531.4:p.Arg545_Lys546insGlnArg
NM_000238.3:c.2649_2654dup , LRG_288t1:c.2649_2654dup	NP_000229.1:p.Arg885_Lys886insGlnArg
NM_172057.2:c.1629_1634dup , LRG_288t3:c.1629_1634dup	NP_742054.1:p.Arg545_Lys546insGlnArg
XM_011516185.1:c.2349_2354dup	XP_011514487.1:p.Arg785_Lys786insGlnArg
XM_011516186.1:c.2649_2654dup	XP_011514488.1:p.Arg885_Lys886insGlnArg
XM_011516185.2:c.2349_2354dup	XP_011514487.1:p.Arg785_Lys786insGlnArg
XM_011516186.3:c.2649_2654dup	XP_011514488.1:p.Arg885_Lys886insGlnArg
XM_017012195.1:c.2499_2504dup	XP_016867684.1:p.Arg835_Lys836insGlnArg
XM_017012196.1:c.2472_2477dup	XP_016867685.1:p.Arg826_Lys827insGlnArg
NM_000238.4:c.2649_2654dup MANE Select	NP_000229.1:p.Arg885_Lys886insGlnArg
NM_172057.3:c.1629_1634dup	NP_742054.1:p.Arg545_Lys546insGlnArg