Canonical Allele Identifier: CA2697549697

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2772506
• ClinVar RCV Id: RCV003532535

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952634_150952655dup , CM000669.2:g.150952634_150952655dup	GRCh38
NC_000007.13:g.150649722_150649743dup , CM000669.1:g.150649722_150649743dup	GRCh37
NC_000007.12:g.150280655_150280676dup	NCBI36
NG_008916.1:g.30273_30294dup , LRG_288:g.30273_30294dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.626_647dup
ENST00000684116.1:n.221_242dup
ENST00000684241.1:n.2161_2182dup
ENST00000262186.10:c.1328_1349dup MANE Select	ENSP00000262186.5:p.Gln450HisfsTer?
ENST00000330883.9:c.308_329dup	ENSP00000328531.4:p.Gln110HisfsTer?
ENST00000262186.9:c.1328_1349dup	ENSP00000262186.5:p.Gln450HisfsTer?
ENST00000330883.8:c.308_329dup	ENSP00000328531.4:p.Gln110HisfsTer?
ENST00000430723.4:c.980_1001dup	ENSP00000387657.4:p.Gln334HisfsTer?
ENST00000461280.1:n.615_636dup
ENST00000473610.5:n.633_654dup
ENST00000532957.5:n.1551_1572dup
NM_000238.3:c.1328_1349dup , LRG_288t1:c.1328_1349dup	NP_000229.1:p.Gln450HisfsTer?
NM_001204798.1:c.308_329dup	NP_001191727.1:p.Gln110HisfsTer?
NM_172056.2:c.1328_1349dup , LRG_288t2:c.1328_1349dup	NP_742053.1:p.Gln450HisfsTer?
NM_172057.2:c.308_329dup , LRG_288t3:c.308_329dup	NP_742054.1:p.Gln110HisfsTer?
XM_011516185.1:c.1028_1049dup	XP_011514487.1:p.Gln350HisfsTer?
XM_011516186.1:c.1328_1349dup	XP_011514488.1:p.Gln450HisfsTer?
XM_011516185.2:c.1028_1049dup	XP_011514487.1:p.Gln350HisfsTer?
XM_011516186.3:c.1328_1349dup	XP_011514488.1:p.Gln450HisfsTer?
XM_017012195.1:c.1178_1199dup	XP_016867684.1:p.Gln400HisfsTer?
XM_017012196.1:c.1151_1172dup	XP_016867685.1:p.Gln391HisfsTer?
NM_000238.4:c.1328_1349dup MANE Select	NP_000229.1:p.Gln450HisfsTer?
NM_001204798.2:c.308_329dup	NP_001191727.1:p.Gln110HisfsTer?
NM_172057.3:c.308_329dup	NP_742054.1:p.Gln110HisfsTer?