Canonical Allele Identifier: CA1752412035

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952696_150952697delinsGC , CM000669.2:g.150952696_150952697delinsGC	GRCh38
NC_000007.13:g.150649784_150649785delinsGC , CM000669.1:g.150649784_150649785delinsGC	GRCh37
NC_000007.12:g.150280717_150280718delinsGC	NCBI36
NG_008916.1:g.30230_30231delinsGC , LRG_288:g.30230_30231delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.583_584delinsGC
ENST00000684116.1:n.178_179delinsGC
ENST00000684241.1:n.2118_2119delinsGC
ENST00000262186.10:c.1285_1286delinsGC MANE Select	ENSP00000262186.5:p.Ala429=
ENST00000330883.9:c.265_266delinsGC	ENSP00000328531.4:p.Ala89=
ENST00000262186.9:c.1285_1286delinsGC	ENSP00000262186.5:p.Ala429=
ENST00000330883.8:c.265_266delinsGC	ENSP00000328531.4:p.Ala89=
ENST00000430723.4:c.937_938delinsGC	ENSP00000387657.4:p.Ala313=
ENST00000461280.1:n.572_573delinsGC
ENST00000473610.5:n.590_591delinsGC
ENST00000532957.5:n.1508_1509delinsGC
NM_000238.3:c.1285_1286delinsGC , LRG_288t1:c.1285_1286delinsGC	NP_000229.1:p.Ala429=
NM_001204798.1:c.265_266delinsGC	NP_001191727.1:p.Ala89=
NM_172056.2:c.1285_1286delinsGC , LRG_288t2:c.1285_1286delinsGC	NP_742053.1:p.Ala429=
NM_172057.2:c.265_266delinsGC , LRG_288t3:c.265_266delinsGC	NP_742054.1:p.Ala89=
XM_011516185.1:c.985_986delinsGC	XP_011514487.1:p.Ala329=
XM_011516186.1:c.1285_1286delinsGC	XP_011514488.1:p.Ala429=
XM_011516185.2:c.985_986delinsGC	XP_011514487.1:p.Ala329=
XM_011516186.3:c.1285_1286delinsGC	XP_011514488.1:p.Ala429=
XM_017012195.1:c.1135_1136delinsGC	XP_016867684.1:p.Ala379=
XM_017012196.1:c.1108_1109delinsGC	XP_016867685.1:p.Ala370=
NM_000238.4:c.1285_1286delinsGC MANE Select	NP_000229.1:p.Ala429=
NM_001204798.2:c.265_266delinsGC	NP_001191727.1:p.Ala89=
NM_172057.3:c.265_266delinsGC	NP_742054.1:p.Ala89=