Canonical Allele Identifier: CA1752430470

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947843_150947844delinsGC , CM000669.2:g.150947843_150947844delinsGC	GRCh38
NC_000007.13:g.150644931_150644932delinsGC , CM000669.1:g.150644931_150644932delinsGC	GRCh37
NC_000007.12:g.150275864_150275865delinsGC	NCBI36
NG_008916.1:g.35083_35084delinsGC , LRG_288:g.35083_35084delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3560_3561delinsGC
ENST00000262186.10:c.2727_2728delinsGC MANE Select	ENSP00000262186.5:p.Gly909=
ENST00000330883.9:c.1707_1708delinsGC	ENSP00000328531.4:p.Gly569=
ENST00000262186.9:c.2727_2728delinsGC	ENSP00000262186.5:p.Gly909=
ENST00000330883.8:c.1707_1708delinsGC	ENSP00000328531.4:p.Gly569=
NM_000238.3:c.2727_2728delinsGC , LRG_288t1:c.2727_2728delinsGC	NP_000229.1:p.Gly909=
NM_172057.2:c.1707_1708delinsGC , LRG_288t3:c.1707_1708delinsGC	NP_742054.1:p.Gly569=
XM_011516185.1:c.2427_2428delinsGC	XP_011514487.1:p.Gly809=
XM_011516186.1:c.2693-153_2693-152delinsGC	XP_011514488.1:n.2693-153_2693-152delinsGC
XM_011516185.2:c.2427_2428delinsGC	XP_011514487.1:p.Gly809=
XM_011516186.3:c.2693-153_2693-152delinsGC	XP_011514488.1:n.2693-153_2693-152delinsGC
XM_017012195.1:c.2577_2578delinsGC	XP_016867684.1:p.Gly859=
XM_017012196.1:c.2550_2551delinsGC	XP_016867685.1:p.Gly850=
NM_000238.4:c.2727_2728delinsGC MANE Select	NP_000229.1:p.Gly909=
NM_172057.3:c.1707_1708delinsGC	NP_742054.1:p.Gly569=