Canonical Allele Identifier: CA1752431297

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1935389
• ClinVar RCV Id: RCV002639000
• dbSNP Id: rs773546753

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948457_150948462del , CM000669.2:g.150948457_150948462del	GRCh38
NC_000007.13:g.150645545_150645550del , CM000669.1:g.150645545_150645550del	GRCh37
NC_000007.12:g.150276478_150276483del	NCBI36
NG_008916.1:g.34469_34474del , LRG_288:g.34469_34474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3511_3516del
ENST00000262186.10:c.2678_2683del MANE Select	ENSP00000262186.5:p.Arg893_Arg894del
ENST00000330883.9:c.1658_1663del	ENSP00000328531.4:p.Arg553_Arg554del
ENST00000262186.9:c.2678_2683del	ENSP00000262186.5:p.Arg893_Arg894del
ENST00000330883.8:c.1658_1663del	ENSP00000328531.4:p.Arg553_Arg554del
NM_000238.3:c.2678_2683del , LRG_288t1:c.2678_2683del	NP_000229.1:p.Arg893_Arg894del
NM_172057.2:c.1658_1663del , LRG_288t3:c.1658_1663del	NP_742054.1:p.Arg553_Arg554del
XM_011516185.1:c.2378_2383del	XP_011514487.1:p.Arg793_Arg794del
XM_011516186.1:c.2678_2683del	XP_011514488.1:p.Arg893_Arg894del
XM_011516185.2:c.2378_2383del	XP_011514487.1:p.Arg793_Arg794del
XM_011516186.3:c.2678_2683del	XP_011514488.1:p.Arg893_Arg894del
XM_017012195.1:c.2528_2533del	XP_016867684.1:p.Arg843_Arg844del
XM_017012196.1:c.2501_2506del	XP_016867685.1:p.Arg834_Arg835del
NM_000238.4:c.2678_2683del MANE Select	NP_000229.1:p.Arg893_Arg894del
NM_172057.3:c.1658_1663del	NP_742054.1:p.Arg553_Arg554del