Canonical Allele Identifier: CA1752417712

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958070_150958071delinsTG , CM000669.2:g.150958070_150958071delinsTG	GRCh38
NC_000007.13:g.150655158_150655159delinsTG , CM000669.1:g.150655158_150655159delinsTG	GRCh37
NC_000007.12:g.150286091_150286092delinsTG	NCBI36
NG_008916.1:g.24856_24857delinsCA , LRG_288:g.24856_24857delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1737_1738delinsCA
ENST00000262186.10:c.904_905delinsCA MANE Select	ENSP00000262186.5:p.His302=
ENST00000262186.9:c.904_905delinsCA	ENSP00000262186.5:p.His302=
ENST00000430723.4:c.556_557delinsCA	ENSP00000387657.4:p.His186=
ENST00000532957.5:n.1127_1128delinsCA
NM_000238.3:c.904_905delinsCA , LRG_288t1:c.904_905delinsCA	NP_000229.1:p.His302=
NM_172056.2:c.904_905delinsCA , LRG_288t2:c.904_905delinsCA	NP_742053.1:p.His302=
XM_011516185.1:c.604_605delinsCA	XP_011514487.1:p.His202=
XM_011516186.1:c.904_905delinsCA	XP_011514488.1:p.His302=
XM_011516185.2:c.604_605delinsCA	XP_011514487.1:p.His202=
XM_011516186.3:c.904_905delinsCA	XP_011514488.1:p.His302=
XM_017012195.1:c.754_755delinsCA	XP_016867684.1:p.His252=
XM_017012196.1:c.727_728delinsCA	XP_016867685.1:p.His243=
NM_000238.4:c.904_905delinsCA MANE Select	NP_000229.1:p.His302=