Canonical Allele Identifier: CA2778425547

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948539_150948541del , CM000669.2:g.150948539_150948541del	GRCh38
NC_000007.13:g.150645627_150645629del , CM000669.1:g.150645627_150645629del	GRCh37
NC_000007.12:g.150276560_150276562del	NCBI36
NG_008916.1:g.34388_34390del , LRG_288:g.34388_34390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3430_3432del
ENST00000262186.10:c.2597_2599del MANE Select	ENSP00000262186.5:p.Asn866del
ENST00000330883.9:c.1577_1579del	ENSP00000328531.4:p.Asn526del
ENST00000262186.9:c.2597_2599del	ENSP00000262186.5:p.Asn866del
ENST00000330883.8:c.1577_1579del	ENSP00000328531.4:p.Asn526del
NM_000238.3:c.2597_2599del , LRG_288t1:c.2597_2599del	NP_000229.1:p.Asn866del
NM_172057.2:c.1577_1579del , LRG_288t3:c.1577_1579del	NP_742054.1:p.Asn526del
XM_011516185.1:c.2297_2299del	XP_011514487.1:p.Asn766del
XM_011516186.1:c.2597_2599del	XP_011514488.1:p.Asn866del
XM_011516185.2:c.2297_2299del	XP_011514487.1:p.Asn766del
XM_011516186.3:c.2597_2599del	XP_011514488.1:p.Asn866del
XM_017012195.1:c.2447_2449del	XP_016867684.1:p.Asn816del
XM_017012196.1:c.2420_2422del	XP_016867685.1:p.Asn807del
NM_000238.4:c.2597_2599del MANE Select	NP_000229.1:p.Asn866del
NM_172057.3:c.1577_1579del	NP_742054.1:p.Asn526del