Canonical Allele Identifier: CA2695208822

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948533_150948542del , CM000669.2:g.150948533_150948542del	GRCh38
NC_000007.13:g.150645621_150645630del , CM000669.1:g.150645621_150645630del	GRCh37
NC_000007.12:g.150276554_150276563del	NCBI36
NG_008916.1:g.34387_34396del , LRG_288:g.34387_34396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3429_3438del
ENST00000262186.10:c.2596_2605del MANE Select	ENSP00000262186.5:p.Asn866ArgfsTer9
ENST00000330883.9:c.1576_1585del	ENSP00000328531.4:p.Asn526ArgfsTer9
ENST00000262186.9:c.2596_2605del	ENSP00000262186.5:p.Asn866ArgfsTer9
ENST00000330883.8:c.1576_1585del	ENSP00000328531.4:p.Asn526ArgfsTer9
NM_000238.3:c.2596_2605del , LRG_288t1:c.2596_2605del	NP_000229.1:p.Asn866ArgfsTer9
NM_172057.2:c.1576_1585del , LRG_288t3:c.1576_1585del	NP_742054.1:p.Asn526ArgfsTer9
XM_011516185.1:c.2296_2305del	XP_011514487.1:p.Asn766ArgfsTer9
XM_011516186.1:c.2596_2605del	XP_011514488.1:p.Asn866ArgfsTer9
XM_011516185.2:c.2296_2305del	XP_011514487.1:p.Asn766ArgfsTer9
XM_011516186.3:c.2596_2605del	XP_011514488.1:p.Asn866ArgfsTer9
XM_017012195.1:c.2446_2455del	XP_016867684.1:p.Asn816ArgfsTer9
XM_017012196.1:c.2419_2428del	XP_016867685.1:p.Asn807ArgfsTer9
NM_000238.4:c.2596_2605del MANE Select	NP_000229.1:p.Asn866ArgfsTer9
NM_172057.3:c.1576_1585del	NP_742054.1:p.Asn526ArgfsTer9