Canonical Allele Identifier: CA1752462036

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974766_150974797delinsCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG , CM000669.2:g.150974766_150974797delinsCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG	GRCh38
NC_000007.13:g.150671854_150671885delinsCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG , CM000669.1:g.150671854_150671885delinsCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG	GRCh37
NC_000007.12:g.150302787_150302818delinsCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG	NCBI36
NG_008916.1:g.8130_8161delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG , LRG_288:g.8130_8161delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.221_252delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG MANE Select	ENSP00000262186.5:p.Thr74=
ENST00000262186.9:c.221_252delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG	ENSP00000262186.5:p.Thr74=
ENST00000430723.4:c.44_75delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG	ENSP00000387657.4:p.Thr15=
ENST00000532957.5:n.444_475delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG
NM_000238.3:c.221_252delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG , LRG_288t1:c.221_252delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG	NP_000229.1:p.Thr74=
NM_172056.2:c.221_252delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG , LRG_288t2:c.221_252delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG	NP_742053.1:p.Thr74=
XM_011516186.1:c.221_252delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG	XP_011514488.1:p.Thr74=
XM_011516186.3:c.221_252delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG	XP_011514488.1:p.Thr74=
XM_017012196.1:c.44_75delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG	XP_016867685.1:p.Thr15=
NM_000238.4:c.221_252delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG MANE Select	NP_000229.1:p.Thr74=