Canonical Allele Identifier: CA2685602550

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948416-T-TCCTCCCCCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948418_150948419insTCCCCCCCCCCCCCCCCCCCCC , CM000669.2:g.150948418_150948419insTCCCCCCCCCCCCCCCCCCCCC	GRCh38
NC_000007.13:g.150645506_150645507insTCCCCCCCCCCCCCCCCCCCCC , CM000669.1:g.150645506_150645507insTCCCCCCCCCCCCCCCCCCCCC	GRCh37
NC_000007.12:g.150276439_150276440insTCCCCCCCCCCCCCCCCCCCCC	NCBI36
NG_008916.1:g.34510_34511insGGGGGGGGGGGGGGGGGGGAGG , LRG_288:g.34510_34511insGGGGGGGGGGGGGGGGGGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+27_3525+28insGGGGGGGGGGGGGGGGGGGAGG
ENST00000262186.10:c.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG MANE Select	ENSP00000262186.5:n.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG
ENST00000330883.9:c.1672+27_1672+28insGGGGGGGGGGGGGGGGGGGAGG	ENSP00000328531.4:n.1672+27_1672+28insGGGGGGGGGGGGGGGGGGGAGG
ENST00000262186.9:c.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG	ENSP00000262186.5:n.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG
ENST00000330883.8:c.1672+27_1672+28insGGGGGGGGGGGGGGGGGGGAGG	ENSP00000328531.4:n.1672+27_1672+28insGGGGGGGGGGGGGGGGGGGAGG
NM_000238.3:c.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG , LRG_288t1:c.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG	NP_000229.1:n.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG
NM_172057.2:c.1672+27_1672+28insGGGGGGGGGGGGGGGGGGGAGG , LRG_288t3:c.1672+27_1672+28insGGGGGGGGGGGGGGGGGGGAGG	NP_742054.1:n.1672+27_1672+28insGGGGGGGGGGGGGGGGGGGAGG
XM_011516185.1:c.2392+27_2392+28insGGGGGGGGGGGGGGGGGGGAGG	XP_011514487.1:n.2392+27_2392+28insGGGGGGGGGGGGGGGGGGGAGG
XM_011516186.1:c.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG	XP_011514488.1:n.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG
XM_011516185.2:c.2392+27_2392+28insGGGGGGGGGGGGGGGGGGGAGG	XP_011514487.1:n.2392+27_2392+28insGGGGGGGGGGGGGGGGGGGAGG
XM_011516186.3:c.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG	XP_011514488.1:n.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG
XM_017012195.1:c.2542+27_2542+28insGGGGGGGGGGGGGGGGGGGAGG	XP_016867684.1:n.2542+27_2542+28insGGGGGGGGGGGGGGGGGGGAGG
XM_017012196.1:c.2515+27_2515+28insGGGGGGGGGGGGGGGGGGGAGG	XP_016867685.1:n.2515+27_2515+28insGGGGGGGGGGGGGGGGGGGAGG
NM_000238.4:c.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG MANE Select	NP_000229.1:n.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG
NM_172057.3:c.1672+27_1672+28insGGGGGGGGGGGGGGGGGGGAGG	NP_742054.1:n.1672+27_1672+28insGGGGGGGGGGGGGGGGGGGAGG