Canonical Allele Identifier: CA2695208632

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958133_150958134dup , CM000669.2:g.150958133_150958134dup	GRCh38
NC_000007.13:g.150655221_150655222dup , CM000669.1:g.150655221_150655222dup	GRCh37
NC_000007.12:g.150286154_150286155dup	NCBI36
NG_008916.1:g.24796_24797dup , LRG_288:g.24796_24797dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1677_1678dup
ENST00000262186.10:c.844_845dup MANE Select	ENSP00000262186.5:p.Ser283ProfsTer?
ENST00000262186.9:c.844_845dup	ENSP00000262186.5:p.Ser283ProfsTer?
ENST00000430723.4:c.496_497dup	ENSP00000387657.4:p.Ser167ProfsTer?
ENST00000532957.5:n.1067_1068dup
NM_000238.3:c.844_845dup , LRG_288t1:c.844_845dup	NP_000229.1:p.Ser283ProfsTer?
NM_172056.2:c.844_845dup , LRG_288t2:c.844_845dup	NP_742053.1:p.Ser283ProfsTer?
XM_011516185.1:c.544_545dup	XP_011514487.1:p.Ser183ProfsTer?
XM_011516186.1:c.844_845dup	XP_011514488.1:p.Ser283ProfsTer?
XM_011516185.2:c.544_545dup	XP_011514487.1:p.Ser183ProfsTer?
XM_011516186.3:c.844_845dup	XP_011514488.1:p.Ser283ProfsTer?
XM_017012195.1:c.694_695dup	XP_016867684.1:p.Ser233ProfsTer?
XM_017012196.1:c.667_668dup	XP_016867685.1:p.Ser224ProfsTer?
NM_000238.4:c.844_845dup MANE Select	NP_000229.1:p.Ser283ProfsTer?