Canonical Allele Identifier: CA2695208727

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951657_150951658del , CM000669.2:g.150951657_150951658del	GRCh38
NC_000007.13:g.150648745_150648746del , CM000669.1:g.150648745_150648746del	GRCh37
NC_000007.12:g.150279678_150279679del	NCBI36
NG_008916.1:g.31269_31270del , LRG_288:g.31269_31270del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1033_1034del
ENST00000684241.1:n.2568_2569del
ENST00000262186.10:c.1735_1736del MANE Select	ENSP00000262186.5:p.Met579GlyfsTer?
ENST00000330883.9:c.715_716del	ENSP00000328531.4:p.Met239GlyfsTer?
ENST00000262186.9:c.1735_1736del	ENSP00000262186.5:p.Met579GlyfsTer?
ENST00000330883.8:c.715_716del	ENSP00000328531.4:p.Met239GlyfsTer?
ENST00000430723.4:c.1387_1388del	ENSP00000387657.4:p.Met463GlyfsTer?
ENST00000461280.1:n.1022_1023del
ENST00000473610.5:n.1040_1041del
ENST00000532957.5:n.1958_1959del
NM_000238.3:c.1735_1736del , LRG_288t1:c.1735_1736del	NP_000229.1:p.Met579GlyfsTer?
NM_001204798.1:c.715_716del	NP_001191727.1:p.Met239GlyfsTer?
NM_172056.2:c.1735_1736del , LRG_288t2:c.1735_1736del	NP_742053.1:p.Met579GlyfsTer?
NM_172057.2:c.715_716del , LRG_288t3:c.715_716del	NP_742054.1:p.Met239GlyfsTer?
XM_011516185.1:c.1435_1436del	XP_011514487.1:p.Met479GlyfsTer?
XM_011516186.1:c.1735_1736del	XP_011514488.1:p.Met579GlyfsTer?
XM_011516185.2:c.1435_1436del	XP_011514487.1:p.Met479GlyfsTer?
XM_011516186.3:c.1735_1736del	XP_011514488.1:p.Met579GlyfsTer?
XM_017012195.1:c.1585_1586del	XP_016867684.1:p.Met529GlyfsTer?
XM_017012196.1:c.1558_1559del	XP_016867685.1:p.Met520GlyfsTer?
NM_000238.4:c.1735_1736del MANE Select	NP_000229.1:p.Met579GlyfsTer?
NM_001204798.2:c.715_716del	NP_001191727.1:p.Met239GlyfsTer?
NM_172057.3:c.715_716del	NP_742054.1:p.Met239GlyfsTer?