Canonical Allele Identifier: CA2739278690

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2825640
• ClinVar RCV Id: RCV003648295

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948477_150948478delinsTT , CM000669.2:g.150948477_150948478delinsTT	GRCh38
NC_000007.13:g.150645565_150645566delinsTT , CM000669.1:g.150645565_150645566delinsTT	GRCh37
NC_000007.12:g.150276498_150276499delinsTT	NCBI36
NG_008916.1:g.34449_34450delinsAA , LRG_288:g.34449_34450delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3491_3492delinsAA
ENST00000262186.10:c.2658_2659delinsAA MANE Select	ENSP00000262186.5:p.Arg887Ser
ENST00000330883.9:c.1638_1639delinsAA	ENSP00000328531.4:p.Arg547Ser
ENST00000262186.9:c.2658_2659delinsAA	ENSP00000262186.5:p.Arg887Ser
ENST00000330883.8:c.1638_1639delinsAA	ENSP00000328531.4:p.Arg547Ser
NM_000238.3:c.2658_2659delinsAA , LRG_288t1:c.2658_2659delinsAA	NP_000229.1:p.Arg887Ser
NM_172057.2:c.1638_1639delinsAA , LRG_288t3:c.1638_1639delinsAA	NP_742054.1:p.Arg547Ser
XM_011516185.1:c.2358_2359delinsAA	XP_011514487.1:p.Arg787Ser
XM_011516186.1:c.2658_2659delinsAA	XP_011514488.1:p.Arg887Ser
XM_011516185.2:c.2358_2359delinsAA	XP_011514487.1:p.Arg787Ser
XM_011516186.3:c.2658_2659delinsAA	XP_011514488.1:p.Arg887Ser
XM_017012195.1:c.2508_2509delinsAA	XP_016867684.1:p.Arg837Ser
XM_017012196.1:c.2481_2482delinsAA	XP_016867685.1:p.Arg828Ser
NM_000238.4:c.2658_2659delinsAA MANE Select	NP_000229.1:p.Arg887Ser
NM_172057.3:c.1638_1639delinsAA	NP_742054.1:p.Arg547Ser