Canonical Allele Identifier: CA2695208821

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948526_150948533dup , CM000669.2:g.150948526_150948533dup	GRCh38
NC_000007.13:g.150645614_150645621dup , CM000669.1:g.150645614_150645621dup	GRCh37
NC_000007.12:g.150276547_150276554dup	NCBI36
NG_008916.1:g.34398_34405dup , LRG_288:g.34398_34405dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3440_3447dup
ENST00000262186.10:c.2607_2614dup MANE Select	ENSP00000262186.5:p.Pro872ArgfsTer9
ENST00000330883.9:c.1587_1594dup	ENSP00000328531.4:p.Pro532ArgfsTer9
ENST00000262186.9:c.2607_2614dup	ENSP00000262186.5:p.Pro872ArgfsTer9
ENST00000330883.8:c.1587_1594dup	ENSP00000328531.4:p.Pro532ArgfsTer9
NM_000238.3:c.2607_2614dup , LRG_288t1:c.2607_2614dup	NP_000229.1:p.Pro872ArgfsTer9
NM_172057.2:c.1587_1594dup , LRG_288t3:c.1587_1594dup	NP_742054.1:p.Pro532ArgfsTer9
XM_011516185.1:c.2307_2314dup	XP_011514487.1:p.Pro772ArgfsTer9
XM_011516186.1:c.2607_2614dup	XP_011514488.1:p.Pro872ArgfsTer9
XM_011516185.2:c.2307_2314dup	XP_011514487.1:p.Pro772ArgfsTer9
XM_011516186.3:c.2607_2614dup	XP_011514488.1:p.Pro872ArgfsTer9
XM_017012195.1:c.2457_2464dup	XP_016867684.1:p.Pro822ArgfsTer9
XM_017012196.1:c.2430_2437dup	XP_016867685.1:p.Pro813ArgfsTer9
NM_000238.4:c.2607_2614dup MANE Select	NP_000229.1:p.Pro872ArgfsTer9
NM_172057.3:c.1587_1594dup	NP_742054.1:p.Pro532ArgfsTer9