Canonical Allele Identifier: CA2695208688

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946907dup , CM000669.2:g.150946907dup	GRCh38
NC_000007.13:g.150643995dup , CM000669.1:g.150643995dup	GRCh37
NC_000007.12:g.150274928dup	NCBI36
NG_008916.1:g.36023dup , LRG_288:g.36023dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4136dup
ENST00000262186.10:c.3303dup MANE Select	ENSP00000262186.5:p.Thr1102HisfsTer17
ENST00000330883.9:c.2283dup	ENSP00000328531.4:p.Thr762HisfsTer17
ENST00000262186.9:c.3303dup	ENSP00000262186.5:p.Thr1102HisfsTer17
ENST00000330883.8:c.2283dup	ENSP00000328531.4:p.Thr762HisfsTer17
NM_000238.3:c.3303dup , LRG_288t1:c.3303dup	NP_000229.1:p.Thr1102HisfsTer17
NM_172057.2:c.2283dup , LRG_288t3:c.2283dup	NP_742054.1:p.Thr762HisfsTer17
XM_011516185.1:c.3003dup	XP_011514487.1:p.Thr1002HisfsTer17
XM_011516185.2:c.3003dup	XP_011514487.1:p.Thr1002HisfsTer17
XM_017012195.1:c.3153dup	XP_016867684.1:p.Thr1052HisfsTer17
XM_017012196.1:c.3126dup	XP_016867685.1:p.Thr1043HisfsTer17
NM_000238.4:c.3303dup MANE Select	NP_000229.1:p.Thr1102HisfsTer17
NM_172057.3:c.2283dup	NP_742054.1:p.Thr762HisfsTer17