Canonical Allele Identifier: CA2778425790

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947387_150947391del , CM000669.2:g.150947387_150947391del	GRCh38
NC_000007.13:g.150644475_150644479del , CM000669.1:g.150644475_150644479del	GRCh37
NC_000007.12:g.150275408_150275412del	NCBI36
NG_008916.1:g.35539_35543del , LRG_288:g.35539_35543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3925_3929del
ENST00000262186.10:c.3092_3096del MANE Select	ENSP00000262186.5:p.Gly1031AlafsTer?
ENST00000330883.9:c.2072_2076del	ENSP00000328531.4:p.Gly691AlafsTer?
ENST00000262186.9:c.3092_3096del	ENSP00000262186.5:p.Gly1031AlafsTer?
ENST00000330883.8:c.2072_2076del	ENSP00000328531.4:p.Gly691AlafsTer?
NM_000238.3:c.3092_3096del , LRG_288t1:c.3092_3096del	NP_000229.1:p.Gly1031AlafsTer?
NM_172057.2:c.2072_2076del , LRG_288t3:c.2072_2076del	NP_742054.1:p.Gly691AlafsTer?
XM_011516185.1:c.2792_2796del	XP_011514487.1:p.Gly931AlafsTer?
XM_011516185.2:c.2792_2796del	XP_011514487.1:p.Gly931AlafsTer?
XM_017012195.1:c.2942_2946del	XP_016867684.1:p.Gly981AlafsTer?
XM_017012196.1:c.2915_2919del	XP_016867685.1:p.Gly972AlafsTer?
NM_000238.4:c.3092_3096del MANE Select	NP_000229.1:p.Gly1031AlafsTer?
NM_172057.3:c.2072_2076del	NP_742054.1:p.Gly691AlafsTer?