Canonical Allele Identifier: CA2778425473

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948481_150948483del , CM000669.2:g.150948481_150948483del	GRCh38
NC_000007.13:g.150645569_150645571del , CM000669.1:g.150645569_150645571del	GRCh37
NC_000007.12:g.150276502_150276504del	NCBI36
NG_008916.1:g.34444_34446del , LRG_288:g.34444_34446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3486_3488del
ENST00000262186.10:c.2653_2655del MANE Select	ENSP00000262186.5:p.Arg885del
ENST00000330883.9:c.1633_1635del	ENSP00000328531.4:p.Arg545del
ENST00000262186.9:c.2653_2655del	ENSP00000262186.5:p.Arg885del
ENST00000330883.8:c.1633_1635del	ENSP00000328531.4:p.Arg545del
NM_000238.3:c.2653_2655del , LRG_288t1:c.2653_2655del	NP_000229.1:p.Arg885del
NM_172057.2:c.1633_1635del , LRG_288t3:c.1633_1635del	NP_742054.1:p.Arg545del
XM_011516185.1:c.2353_2355del	XP_011514487.1:p.Arg785del
XM_011516186.1:c.2653_2655del	XP_011514488.1:p.Arg885del
XM_011516185.2:c.2353_2355del	XP_011514487.1:p.Arg785del
XM_011516186.3:c.2653_2655del	XP_011514488.1:p.Arg885del
XM_017012195.1:c.2503_2505del	XP_016867684.1:p.Arg835del
XM_017012196.1:c.2476_2478del	XP_016867685.1:p.Arg826del
NM_000238.4:c.2653_2655del MANE Select	NP_000229.1:p.Arg885del
NM_172057.3:c.1633_1635del	NP_742054.1:p.Arg545del