Canonical Allele Identifier: CA2778425491

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948485_150948486insAAT , CM000669.2:g.150948485_150948486insAAT	GRCh38
NC_000007.13:g.150645573_150645574insAAT , CM000669.1:g.150645573_150645574insAAT	GRCh37
NC_000007.12:g.150276506_150276507insAAT	NCBI36
NG_008916.1:g.34442_34443insTTA , LRG_288:g.34442_34443insTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3484_3485insTTA
ENST00000262186.10:c.2651_2652insTTA MANE Select	ENSP00000262186.5:p.Gln884HisfsTer2
ENST00000330883.9:c.1631_1632insTTA	ENSP00000328531.4:p.Gln544HisfsTer2
ENST00000262186.9:c.2651_2652insTTA	ENSP00000262186.5:p.Gln884HisfsTer2
ENST00000330883.8:c.1631_1632insTTA	ENSP00000328531.4:p.Gln544HisfsTer2
NM_000238.3:c.2651_2652insTTA , LRG_288t1:c.2651_2652insTTA	NP_000229.1:p.Gln884HisfsTer2
NM_172057.2:c.1631_1632insTTA , LRG_288t3:c.1631_1632insTTA	NP_742054.1:p.Gln544HisfsTer2
XM_011516185.1:c.2351_2352insTTA	XP_011514487.1:p.Gln784HisfsTer2
XM_011516186.1:c.2651_2652insTTA	XP_011514488.1:p.Gln884HisfsTer2
XM_011516185.2:c.2351_2352insTTA	XP_011514487.1:p.Gln784HisfsTer2
XM_011516186.3:c.2651_2652insTTA	XP_011514488.1:p.Gln884HisfsTer2
XM_017012195.1:c.2501_2502insTTA	XP_016867684.1:p.Gln834HisfsTer2
XM_017012196.1:c.2474_2475insTTA	XP_016867685.1:p.Gln825HisfsTer2
NM_000238.4:c.2651_2652insTTA MANE Select	NP_000229.1:p.Gln884HisfsTer2
NM_172057.3:c.1631_1632insTTA	NP_742054.1:p.Gln544HisfsTer2