Canonical Allele Identifier: CA1752417986

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 960485
• ClinVar RCV Id: RCV001234017
• dbSNP Id: rs1801442718

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958165_150958166del , CM000669.2:g.150958165_150958166del	GRCh38
NC_000007.13:g.150655253_150655254del , CM000669.1:g.150655253_150655254del	GRCh37
NC_000007.12:g.150286186_150286187del	NCBI36
NG_008916.1:g.24764_24765del , LRG_288:g.24764_24765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1645_1646del
ENST00000262186.10:c.812_813del MANE Select	ENSP00000262186.5:p.Arg271LeufsTer?
ENST00000262186.9:c.812_813del	ENSP00000262186.5:p.Arg271LeufsTer?
ENST00000430723.4:c.464_465del	ENSP00000387657.4:p.Arg155LeufsTer?
ENST00000532957.5:n.1035_1036del
NM_000238.3:c.812_813del , LRG_288t1:c.812_813del	NP_000229.1:p.Arg271LeufsTer?
NM_172056.2:c.812_813del , LRG_288t2:c.812_813del	NP_742053.1:p.Arg271LeufsTer?
XM_011516185.1:c.512_513del	XP_011514487.1:p.Arg171LeufsTer?
XM_011516186.1:c.812_813del	XP_011514488.1:p.Arg271LeufsTer?
XM_011516185.2:c.512_513del	XP_011514487.1:p.Arg171LeufsTer?
XM_011516186.3:c.812_813del	XP_011514488.1:p.Arg271LeufsTer?
XM_017012195.1:c.662_663del	XP_016867684.1:p.Arg221LeufsTer?
XM_017012196.1:c.635_636del	XP_016867685.1:p.Arg212LeufsTer?
NM_000238.4:c.812_813del MANE Select	NP_000229.1:p.Arg271LeufsTer?