Canonical Allele Identifier: CA2685602531

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948415-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948415_150948416insCA , CM000669.2:g.150948415_150948416insCA	GRCh38
NC_000007.13:g.150645503_150645504insCA , CM000669.1:g.150645503_150645504insCA	GRCh37
NC_000007.12:g.150276436_150276437insCA	NCBI36
NG_008916.1:g.34511_34512insTG , LRG_288:g.34511_34512insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+28_3525+29insTG
ENST00000262186.10:c.2692+28_2692+29insTG MANE Select	ENSP00000262186.5:n.2692+28_2692+29insTG
ENST00000330883.9:c.1672+28_1672+29insTG	ENSP00000328531.4:n.1672+28_1672+29insTG
ENST00000262186.9:c.2692+28_2692+29insTG	ENSP00000262186.5:n.2692+28_2692+29insTG
ENST00000330883.8:c.1672+28_1672+29insTG	ENSP00000328531.4:n.1672+28_1672+29insTG
NM_000238.3:c.2692+28_2692+29insTG , LRG_288t1:c.2692+28_2692+29insTG	NP_000229.1:n.2692+28_2692+29insTG
NM_172057.2:c.1672+28_1672+29insTG , LRG_288t3:c.1672+28_1672+29insTG	NP_742054.1:n.1672+28_1672+29insTG
XM_011516185.1:c.2392+28_2392+29insTG	XP_011514487.1:n.2392+28_2392+29insTG
XM_011516186.1:c.2692+28_2692+29insTG	XP_011514488.1:n.2692+28_2692+29insTG
XM_011516185.2:c.2392+28_2392+29insTG	XP_011514487.1:n.2392+28_2392+29insTG
XM_011516186.3:c.2692+28_2692+29insTG	XP_011514488.1:n.2692+28_2692+29insTG
XM_017012195.1:c.2542+28_2542+29insTG	XP_016867684.1:n.2542+28_2542+29insTG
XM_017012196.1:c.2515+28_2515+29insTG	XP_016867685.1:n.2515+28_2515+29insTG
NM_000238.4:c.2692+28_2692+29insTG MANE Select	NP_000229.1:n.2692+28_2692+29insTG
NM_172057.3:c.1672+28_1672+29insTG	NP_742054.1:n.1672+28_1672+29insTG