Canonical Allele Identifier: CA071918

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958340del , CM000669.2:g.150958340del	GRCh38
NC_000007.13:g.150655428del , CM000669.1:g.150655428del	GRCh37
NC_000007.12:g.150286361del	NCBI36
NG_008916.1:g.24587del , LRG_288:g.24587del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1468del
ENST00000262186.10:c.635del MANE Select	ENSP00000262186.5:p.Leu212ArgfsTer4
ENST00000262186.9:c.635del	ENSP00000262186.5:p.Leu212ArgfsTer4
ENST00000430723.4:c.287del	ENSP00000387657.4:p.Leu96ArgfsTer4
ENST00000532957.5:n.858del
NM_000238.3:c.635del , LRG_288t1:c.635del	NP_000229.1:p.Leu212ArgfsTer4
NM_172056.2:c.635del , LRG_288t2:c.635del	NP_742053.1:p.Leu212ArgfsTer4
XM_011516185.1:c.335del	XP_011514487.1:p.Leu112ArgfsTer4
XM_011516186.1:c.635del	XP_011514488.1:p.Leu212ArgfsTer4
XM_011516185.2:c.335del	XP_011514487.1:p.Leu112ArgfsTer4
XM_011516186.3:c.635del	XP_011514488.1:p.Leu212ArgfsTer4
XM_017012195.1:c.485del	XP_016867684.1:p.Leu162ArgfsTer4
XM_017012196.1:c.458del	XP_016867685.1:p.Leu153ArgfsTer4
NM_000238.4:c.635del MANE Select	NP_000229.1:p.Leu212ArgfsTer4