Canonical Allele Identifier: CA2499218789

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1058588
• ClinVar RCV Id: RCV001367745
• dbSNP Id: rs2116933373

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947796_150947797delinsAA , CM000669.2:g.150947796_150947797delinsAA	GRCh38
NC_000007.13:g.150644884_150644885delinsAA , CM000669.1:g.150644884_150644885delinsAA	GRCh37
NC_000007.12:g.150275817_150275818delinsAA	NCBI36
NG_008916.1:g.35130_35131delinsTT , LRG_288:g.35130_35131delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3607_3608delinsTT
ENST00000262186.10:c.2774_2775delinsTT MANE Select	ENSP00000262186.5:p.Gly925Val
ENST00000330883.9:c.1754_1755delinsTT	ENSP00000328531.4:p.Gly585Val
ENST00000262186.9:c.2774_2775delinsTT	ENSP00000262186.5:p.Gly925Val
ENST00000330883.8:c.1754_1755delinsTT	ENSP00000328531.4:p.Gly585Val
NM_000238.3:c.2774_2775delinsTT , LRG_288t1:c.2774_2775delinsTT	NP_000229.1:p.Gly925Val
NM_172057.2:c.1754_1755delinsTT , LRG_288t3:c.1754_1755delinsTT	NP_742054.1:p.Gly585Val
XM_011516185.1:c.2474_2475delinsTT	XP_011514487.1:p.Gly825Val
XM_011516186.1:c.2693-106_2693-105delinsTT	XP_011514488.1:n.2693-106_2693-105delinsTT
XM_011516185.2:c.2474_2475delinsTT	XP_011514487.1:p.Gly825Val
XM_011516186.3:c.2693-106_2693-105delinsTT	XP_011514488.1:n.2693-106_2693-105delinsTT
XM_017012195.1:c.2624_2625delinsTT	XP_016867684.1:p.Gly875Val
XM_017012196.1:c.2597_2598delinsTT	XP_016867685.1:p.Gly866Val
NM_000238.4:c.2774_2775delinsTT MANE Select	NP_000229.1:p.Gly925Val
NM_172057.3:c.1754_1755delinsTT	NP_742054.1:p.Gly585Val