Canonical Allele Identifier: CA1752431424

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948487_150948490delinsCCGA , CM000669.2:g.150948487_150948490delinsCCGA	GRCh38
NC_000007.13:g.150645575_150645578delinsCCGA , CM000669.1:g.150645575_150645578delinsCCGA	GRCh37
NC_000007.12:g.150276508_150276511delinsCCGA	NCBI36
NG_008916.1:g.34437_34440delinsTCGG , LRG_288:g.34437_34440delinsTCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3479_3482delinsTCGG
ENST00000262186.10:c.2646_2649delinsTCGG MANE Select	ENSP00000262186.5:p.Ser882=
ENST00000330883.9:c.1626_1629delinsTCGG	ENSP00000328531.4:p.Ser542=
ENST00000262186.9:c.2646_2649delinsTCGG	ENSP00000262186.5:p.Ser882=
ENST00000330883.8:c.1626_1629delinsTCGG	ENSP00000328531.4:p.Ser542=
NM_000238.3:c.2646_2649delinsTCGG , LRG_288t1:c.2646_2649delinsTCGG	NP_000229.1:p.Ser882=
NM_172057.2:c.1626_1629delinsTCGG , LRG_288t3:c.1626_1629delinsTCGG	NP_742054.1:p.Ser542=
XM_011516185.1:c.2346_2349delinsTCGG	XP_011514487.1:p.Ser782=
XM_011516186.1:c.2646_2649delinsTCGG	XP_011514488.1:p.Ser882=
XM_011516185.2:c.2346_2349delinsTCGG	XP_011514487.1:p.Ser782=
XM_011516186.3:c.2646_2649delinsTCGG	XP_011514488.1:p.Ser882=
XM_017012195.1:c.2496_2499delinsTCGG	XP_016867684.1:p.Ser832=
XM_017012196.1:c.2469_2472delinsTCGG	XP_016867685.1:p.Ser823=
NM_000238.4:c.2646_2649delinsTCGG MANE Select	NP_000229.1:p.Ser882=
NM_172057.3:c.1626_1629delinsTCGG	NP_742054.1:p.Ser542=