Canonical Allele Identifier: CA2580077706

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2452989
• ClinVar RCV Id: RCV003177763

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947375_150947388delinsGA , CM000669.2:g.150947375_150947388delinsGA	GRCh38
NC_000007.13:g.150644463_150644476delinsGA , CM000669.1:g.150644463_150644476delinsGA	GRCh37
NC_000007.12:g.150275396_150275409delinsGA	NCBI36
NG_008916.1:g.35539_35552delinsTC , LRG_288:g.35539_35552delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3925_3938delinsTC
ENST00000262186.10:c.3092_3105delinsTC MANE Select	ENSP00000262186.5:p.Gly1031_Arg1035delins...
ENST00000330883.9:c.2072_2085delinsTC	ENSP00000328531.4:p.Gly691_Arg695delinsVa...
ENST00000262186.9:c.3092_3105delinsTC	ENSP00000262186.5:p.Gly1031_Arg1035delins...
ENST00000330883.8:c.2072_2085delinsTC	ENSP00000328531.4:p.Gly691_Arg695delinsVa...
NM_000238.3:c.3092_3105delinsTC , LRG_288t1:c.3092_3105delinsTC	NP_000229.1:p.Gly1031_Arg1035delinsVal
NM_172057.2:c.2072_2085delinsTC , LRG_288t3:c.2072_2085delinsTC	NP_742054.1:p.Gly691_Arg695delinsVal
XM_011516185.1:c.2792_2805delinsTC	XP_011514487.1:p.Gly931_Arg935delinsVal
XM_011516185.2:c.2792_2805delinsTC	XP_011514487.1:p.Gly931_Arg935delinsVal
XM_017012195.1:c.2942_2955delinsTC	XP_016867684.1:p.Gly981_Arg985delinsVal
XM_017012196.1:c.2915_2928delinsTC	XP_016867685.1:p.Gly972_Arg976delinsVal
NM_000238.4:c.3092_3105delinsTC MANE Select	NP_000229.1:p.Gly1031_Arg1035delinsVal
NM_172057.3:c.2072_2085delinsTC	NP_742054.1:p.Gly691_Arg695delinsVal