Canonical Allele Identifier: CA1752419972

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959647_150959650delinsTCAC , CM000669.2:g.150959647_150959650delinsTCAC	GRCh38
NC_000007.13:g.150656735_150656738delinsTCAC , CM000669.1:g.150656735_150656738delinsTCAC	GRCh37
NC_000007.12:g.150287668_150287671delinsTCAC	NCBI36
NG_008916.1:g.23277_23280delinsGTGA , LRG_288:g.23277_23280delinsGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1227_1230delinsGTGA
ENST00000262186.10:c.394_397delinsGTGA MANE Select	ENSP00000262186.5:p.Val132=
ENST00000262186.9:c.394_397delinsGTGA	ENSP00000262186.5:p.Val132=
ENST00000430723.4:c.217_220delinsGTGA	ENSP00000387657.4:p.Val73=
ENST00000532957.5:n.617_620delinsGTGA
NM_000238.3:c.394_397delinsGTGA , LRG_288t1:c.394_397delinsGTGA	NP_000229.1:p.Val132=
NM_172056.2:c.394_397delinsGTGA , LRG_288t2:c.394_397delinsGTGA	NP_742053.1:p.Val132=
XM_011516185.1:c.94_97delinsGTGA	XP_011514487.1:p.Val32=
XM_011516186.1:c.394_397delinsGTGA	XP_011514488.1:p.Val132=
XM_011516185.2:c.94_97delinsGTGA	XP_011514487.1:p.Val32=
XM_011516186.3:c.394_397delinsGTGA	XP_011514488.1:p.Val132=
XM_017012195.1:c.244_247delinsGTGA	XP_016867684.1:p.Val82=
XM_017012196.1:c.217_220delinsGTGA	XP_016867685.1:p.Val73=
NM_000238.4:c.394_397delinsGTGA MANE Select	NP_000229.1:p.Val132=