Canonical Allele Identifier: CA2685600520

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948513-T-TACTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948514_150948519dup , CM000669.2:g.150948514_150948519dup	GRCh38
NC_000007.13:g.150645602_150645607dup , CM000669.1:g.150645602_150645607dup	GRCh37
NC_000007.12:g.150276535_150276540dup	NCBI36
NG_008916.1:g.34408_34413dup , LRG_288:g.34408_34413dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3450_3455dup
ENST00000262186.10:c.2617_2622dup MANE Select	ENSP00000262186.5:p.Ser874_Thr875insGlySer
ENST00000330883.9:c.1597_1602dup	ENSP00000328531.4:p.Ser534_Thr535insGlySer
ENST00000262186.9:c.2617_2622dup	ENSP00000262186.5:p.Ser874_Thr875insGlySer
ENST00000330883.8:c.1597_1602dup	ENSP00000328531.4:p.Ser534_Thr535insGlySer
NM_000238.3:c.2617_2622dup , LRG_288t1:c.2617_2622dup	NP_000229.1:p.Ser874_Thr875insGlySer
NM_172057.2:c.1597_1602dup , LRG_288t3:c.1597_1602dup	NP_742054.1:p.Ser534_Thr535insGlySer
XM_011516185.1:c.2317_2322dup	XP_011514487.1:p.Ser774_Thr775insGlySer
XM_011516186.1:c.2617_2622dup	XP_011514488.1:p.Ser874_Thr875insGlySer
XM_011516185.2:c.2317_2322dup	XP_011514487.1:p.Ser774_Thr775insGlySer
XM_011516186.3:c.2617_2622dup	XP_011514488.1:p.Ser874_Thr875insGlySer
XM_017012195.1:c.2467_2472dup	XP_016867684.1:p.Ser824_Thr825insGlySer
XM_017012196.1:c.2440_2445dup	XP_016867685.1:p.Ser815_Thr816insGlySer
NM_000238.4:c.2617_2622dup MANE Select	NP_000229.1:p.Ser874_Thr875insGlySer
NM_172057.3:c.1597_1602dup	NP_742054.1:p.Ser534_Thr535insGlySer