Canonical Allele Identifier: CA2580077683

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1765131
• ClinVar RCV Id: RCV002376138

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958073_150958085del , CM000669.2:g.150958073_150958085del	GRCh38
NC_000007.13:g.150655161_150655173del , CM000669.1:g.150655161_150655173del	GRCh37
NC_000007.12:g.150286094_150286106del	NCBI36
NG_008916.1:g.24844_24856del , LRG_288:g.24844_24856del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1725_1737del
ENST00000262186.10:c.892_904del MANE Select	ENSP00000262186.5:p.Pro298ThrfsTer?
ENST00000262186.9:c.892_904del	ENSP00000262186.5:p.Pro298ThrfsTer?
ENST00000430723.4:c.544_556del	ENSP00000387657.4:p.Pro182ThrfsTer?
ENST00000532957.5:n.1115_1127del
NM_000238.3:c.892_904del , LRG_288t1:c.892_904del	NP_000229.1:p.Pro298ThrfsTer?
NM_172056.2:c.892_904del , LRG_288t2:c.892_904del	NP_742053.1:p.Pro298ThrfsTer?
XM_011516185.1:c.592_604del	XP_011514487.1:p.Pro198ThrfsTer?
XM_011516186.1:c.892_904del	XP_011514488.1:p.Pro298ThrfsTer?
XM_011516185.2:c.592_604del	XP_011514487.1:p.Pro198ThrfsTer?
XM_011516186.3:c.892_904del	XP_011514488.1:p.Pro298ThrfsTer?
XM_017012195.1:c.742_754del	XP_016867684.1:p.Pro248ThrfsTer?
XM_017012196.1:c.715_727del	XP_016867685.1:p.Pro239ThrfsTer?
NM_000238.4:c.892_904del MANE Select	NP_000229.1:p.Pro298ThrfsTer?