Canonical Allele Identifier: CA2685602590

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948420-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948420_150948421insAA , CM000669.2:g.150948420_150948421insAA	GRCh38
NC_000007.13:g.150645508_150645509insAA , CM000669.1:g.150645508_150645509insAA	GRCh37
NC_000007.12:g.150276441_150276442insAA	NCBI36
NG_008916.1:g.34506_34507insTT , LRG_288:g.34506_34507insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+23_3525+24insTT
ENST00000262186.10:c.2692+23_2692+24insTT MANE Select	ENSP00000262186.5:n.2692+23_2692+24insTT
ENST00000330883.9:c.1672+23_1672+24insTT	ENSP00000328531.4:n.1672+23_1672+24insTT
ENST00000262186.9:c.2692+23_2692+24insTT	ENSP00000262186.5:n.2692+23_2692+24insTT
ENST00000330883.8:c.1672+23_1672+24insTT	ENSP00000328531.4:n.1672+23_1672+24insTT
NM_000238.3:c.2692+23_2692+24insTT , LRG_288t1:c.2692+23_2692+24insTT	NP_000229.1:n.2692+23_2692+24insTT
NM_172057.2:c.1672+23_1672+24insTT , LRG_288t3:c.1672+23_1672+24insTT	NP_742054.1:n.1672+23_1672+24insTT
XM_011516185.1:c.2392+23_2392+24insTT	XP_011514487.1:n.2392+23_2392+24insTT
XM_011516186.1:c.2692+23_2692+24insTT	XP_011514488.1:n.2692+23_2692+24insTT
XM_011516185.2:c.2392+23_2392+24insTT	XP_011514487.1:n.2392+23_2392+24insTT
XM_011516186.3:c.2692+23_2692+24insTT	XP_011514488.1:n.2692+23_2692+24insTT
XM_017012195.1:c.2542+23_2542+24insTT	XP_016867684.1:n.2542+23_2542+24insTT
XM_017012196.1:c.2515+23_2515+24insTT	XP_016867685.1:n.2515+23_2515+24insTT
NM_000238.4:c.2692+23_2692+24insTT MANE Select	NP_000229.1:n.2692+23_2692+24insTT
NM_172057.3:c.1672+23_1672+24insTT	NP_742054.1:n.1672+23_1672+24insTT