Canonical Allele Identifier: CA1752416624

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957316_150957317delinsTG , CM000669.2:g.150957316_150957317delinsTG	GRCh38
NC_000007.13:g.150654404_150654405delinsTG , CM000669.1:g.150654404_150654405delinsTG	GRCh37
NC_000007.12:g.150285337_150285338delinsTG	NCBI36
NG_008916.1:g.25610_25611delinsCA , LRG_288:g.25610_25611delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1935_1936delinsCA
ENST00000262186.10:c.1102_1103delinsCA MANE Select	ENSP00000262186.5:p.His368=
ENST00000262186.9:c.1102_1103delinsCA	ENSP00000262186.5:p.His368=
ENST00000430723.4:c.754_755delinsCA	ENSP00000387657.4:p.His252=
ENST00000532957.5:n.1325_1326delinsCA
NM_000238.3:c.1102_1103delinsCA , LRG_288t1:c.1102_1103delinsCA	NP_000229.1:p.His368=
NM_172056.2:c.1102_1103delinsCA , LRG_288t2:c.1102_1103delinsCA	NP_742053.1:p.His368=
XM_011516185.1:c.802_803delinsCA	XP_011514487.1:p.His268=
XM_011516186.1:c.1102_1103delinsCA	XP_011514488.1:p.His368=
XM_011516185.2:c.802_803delinsCA	XP_011514487.1:p.His268=
XM_011516186.3:c.1102_1103delinsCA	XP_011514488.1:p.His368=
XM_017012195.1:c.952_953delinsCA	XP_016867684.1:p.His318=
XM_017012196.1:c.925_926delinsCA	XP_016867685.1:p.His309=
NM_000238.4:c.1102_1103delinsCA MANE Select	NP_000229.1:p.His368=