Canonical Allele Identifier: CA2499218784

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1070541
• ClinVar RCV Id: RCV001382731
• dbSNP Id: rs2116928923

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947381_150947394del , CM000669.2:g.150947381_150947394del	GRCh38
NC_000007.13:g.150644469_150644482del , CM000669.1:g.150644469_150644482del	GRCh37
NC_000007.12:g.150275402_150275415del	NCBI36
NG_008916.1:g.35533_35546del , LRG_288:g.35533_35546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3919_3932del
ENST00000262186.10:c.3086_3099del MANE Select	ENSP00000262186.5:p.Ser1029ThrfsTer?
ENST00000330883.9:c.2066_2079del	ENSP00000328531.4:p.Ser689ThrfsTer?
ENST00000262186.9:c.3086_3099del	ENSP00000262186.5:p.Ser1029ThrfsTer?
ENST00000330883.8:c.2066_2079del	ENSP00000328531.4:p.Ser689ThrfsTer?
NM_000238.3:c.3086_3099del , LRG_288t1:c.3086_3099del	NP_000229.1:p.Ser1029ThrfsTer?
NM_172057.2:c.2066_2079del , LRG_288t3:c.2066_2079del	NP_742054.1:p.Ser689ThrfsTer?
XM_011516185.1:c.2786_2799del	XP_011514487.1:p.Ser929ThrfsTer?
XM_011516185.2:c.2786_2799del	XP_011514487.1:p.Ser929ThrfsTer?
XM_017012195.1:c.2936_2949del	XP_016867684.1:p.Ser979ThrfsTer?
XM_017012196.1:c.2909_2922del	XP_016867685.1:p.Ser970ThrfsTer?
NM_000238.4:c.3086_3099del MANE Select	NP_000229.1:p.Ser1029ThrfsTer?
NM_172057.3:c.2066_2079del	NP_742054.1:p.Ser689ThrfsTer?