Canonical Allele Identifier: CA1752430746

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948060_150948062delinsCCT , CM000669.2:g.150948060_150948062delinsCCT	GRCh38
NC_000007.13:g.150645148_150645150delinsCCT , CM000669.1:g.150645148_150645150delinsCCT	GRCh37
NC_000007.12:g.150276081_150276083delinsCCT	NCBI36
NG_008916.1:g.34865_34867delinsAGG , LRG_288:g.34865_34867delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-184_3526-182delinsAGG
ENST00000262186.10:c.2693-184_2693-182delinsAGG MANE Select	ENSP00000262186.5:n.2693-184_2693-182delinsAGG
ENST00000330883.9:c.1673-184_1673-182delinsAGG	ENSP00000328531.4:n.1673-184_1673-182delinsAGG
ENST00000262186.9:c.2693-184_2693-182delinsAGG	ENSP00000262186.5:n.2693-184_2693-182delinsAGG
ENST00000330883.8:c.1673-184_1673-182delinsAGG	ENSP00000328531.4:n.1673-184_1673-182delinsAGG
NM_000238.3:c.2693-184_2693-182delinsAGG , LRG_288t1:c.2693-184_2693-182delinsAGG	NP_000229.1:n.2693-184_2693-182delinsAGG
NM_172057.2:c.1673-184_1673-182delinsAGG , LRG_288t3:c.1673-184_1673-182delinsAGG	NP_742054.1:n.1673-184_1673-182delinsAGG
XM_011516185.1:c.2393-184_2393-182delinsAGG	XP_011514487.1:n.2393-184_2393-182delinsAGG
XM_011516186.1:c.2693-371_2693-369delinsAGG	XP_011514488.1:n.2693-371_2693-369delinsAGG
XM_011516185.2:c.2393-184_2393-182delinsAGG	XP_011514487.1:n.2393-184_2393-182delinsAGG
XM_011516186.3:c.2693-371_2693-369delinsAGG	XP_011514488.1:n.2693-371_2693-369delinsAGG
XM_017012195.1:c.2543-184_2543-182delinsAGG	XP_016867684.1:n.2543-184_2543-182delinsAGG
XM_017012196.1:c.2516-184_2516-182delinsAGG	XP_016867685.1:n.2516-184_2516-182delinsAGG
NM_000238.4:c.2693-184_2693-182delinsAGG MANE Select	NP_000229.1:n.2693-184_2693-182delinsAGG
NM_172057.3:c.1673-184_1673-182delinsAGG	NP_742054.1:n.1673-184_1673-182delinsAGG