Canonical Allele Identifier: CA2573141814

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1452777
• ClinVar RCV Id: RCV002037745
• dbSNP Id: rs2117003430

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958156_150958168del , CM000669.2:g.150958156_150958168del	GRCh38
NC_000007.13:g.150655244_150655256del , CM000669.1:g.150655244_150655256del	GRCh37
NC_000007.12:g.150286177_150286189del	NCBI36
NG_008916.1:g.24761_24773del , LRG_288:g.24761_24773del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1642_1654del
ENST00000262186.10:c.809_821del MANE Select	ENSP00000262186.5:p.Thr270LysfsTer?
ENST00000262186.9:c.809_821del	ENSP00000262186.5:p.Thr270LysfsTer?
ENST00000430723.4:c.461_473del	ENSP00000387657.4:p.Thr154LysfsTer?
ENST00000532957.5:n.1032_1044del
NM_000238.3:c.809_821del , LRG_288t1:c.809_821del	NP_000229.1:p.Thr270LysfsTer?
NM_172056.2:c.809_821del , LRG_288t2:c.809_821del	NP_742053.1:p.Thr270LysfsTer?
XM_011516185.1:c.509_521del	XP_011514487.1:p.Thr170LysfsTer?
XM_011516186.1:c.809_821del	XP_011514488.1:p.Thr270LysfsTer?
XM_011516185.2:c.509_521del	XP_011514487.1:p.Thr170LysfsTer?
XM_011516186.3:c.809_821del	XP_011514488.1:p.Thr270LysfsTer?
XM_017012195.1:c.659_671del	XP_016867684.1:p.Thr220LysfsTer?
XM_017012196.1:c.632_644del	XP_016867685.1:p.Thr211LysfsTer?
NM_000238.4:c.809_821del MANE Select	NP_000229.1:p.Thr270LysfsTer?