Canonical Allele Identifier: CA2685602588

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948420-C-CCCGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948421_150948422insCGAAC , CM000669.2:g.150948421_150948422insCGAAC	GRCh38
NC_000007.13:g.150645509_150645510insCGAAC , CM000669.1:g.150645509_150645510insCGAAC	GRCh37
NC_000007.12:g.150276442_150276443insCGAAC	NCBI36
NG_008916.1:g.34506_34507insTTCGG , LRG_288:g.34506_34507insTTCGG

Transcript Alleles

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