Canonical Allele Identifier: CA1752431105

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948411_150948412delinsCG , CM000669.2:g.150948411_150948412delinsCG	GRCh38
NC_000007.13:g.150645499_150645500delinsCG , CM000669.1:g.150645499_150645500delinsCG	GRCh37
NC_000007.12:g.150276432_150276433delinsCG	NCBI36
NG_008916.1:g.34515_34516delinsCG , LRG_288:g.34515_34516delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+32_3525+33delinsCG
ENST00000262186.10:c.2692+32_2692+33delinsCG MANE Select	ENSP00000262186.5:n.2692+32_2692+33delinsCG
ENST00000330883.9:c.1672+32_1672+33delinsCG	ENSP00000328531.4:n.1672+32_1672+33delinsCG
ENST00000262186.9:c.2692+32_2692+33delinsCG	ENSP00000262186.5:n.2692+32_2692+33delinsCG
ENST00000330883.8:c.1672+32_1672+33delinsCG	ENSP00000328531.4:n.1672+32_1672+33delinsCG
NM_000238.3:c.2692+32_2692+33delinsCG , LRG_288t1:c.2692+32_2692+33delinsCG	NP_000229.1:n.2692+32_2692+33delinsCG
NM_172057.2:c.1672+32_1672+33delinsCG , LRG_288t3:c.1672+32_1672+33delinsCG	NP_742054.1:n.1672+32_1672+33delinsCG
XM_011516185.1:c.2392+32_2392+33delinsCG	XP_011514487.1:n.2392+32_2392+33delinsCG
XM_011516186.1:c.2692+32_2692+33delinsCG	XP_011514488.1:n.2692+32_2692+33delinsCG
XM_011516185.2:c.2392+32_2392+33delinsCG	XP_011514487.1:n.2392+32_2392+33delinsCG
XM_011516186.3:c.2692+32_2692+33delinsCG	XP_011514488.1:n.2692+32_2692+33delinsCG
XM_017012195.1:c.2542+32_2542+33delinsCG	XP_016867684.1:n.2542+32_2542+33delinsCG
XM_017012196.1:c.2515+32_2515+33delinsCG	XP_016867685.1:n.2515+32_2515+33delinsCG
NM_000238.4:c.2692+32_2692+33delinsCG MANE Select	NP_000229.1:n.2692+32_2692+33delinsCG
NM_172057.3:c.1672+32_1672+33delinsCG	NP_742054.1:n.1672+32_1672+33delinsCG