Canonical Allele Identifier: CA2685603704

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974646-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974646_150974647insCA , CM000669.2:g.150974646_150974647insCA	GRCh38
NC_000007.13:g.150671734_150671735insCA , CM000669.1:g.150671734_150671735insCA	GRCh37
NC_000007.12:g.150302667_150302668insCA	NCBI36
NG_008916.1:g.8280_8281insTG , LRG_288:g.8280_8281insTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+64_307+65insTG MANE Select	ENSP00000262186.5:n.307+64_307+65insTG
ENST00000262186.9:c.307+64_307+65insTG	ENSP00000262186.5:n.307+64_307+65insTG
ENST00000430723.4:c.130+64_130+65insTG	ENSP00000387657.4:n.130+64_130+65insTG
ENST00000532957.5:n.530+64_530+65insTG
NM_000238.3:c.307+64_307+65insTG , LRG_288t1:c.307+64_307+65insTG	NP_000229.1:n.307+64_307+65insTG
NM_172056.2:c.307+64_307+65insTG , LRG_288t2:c.307+64_307+65insTG	NP_742053.1:n.307+64_307+65insTG
XM_011516186.1:c.307+64_307+65insTG	XP_011514488.1:n.307+64_307+65insTG
XM_011516186.3:c.307+64_307+65insTG	XP_011514488.1:n.307+64_307+65insTG
XM_017012196.1:c.130+64_130+65insTG	XP_016867685.1:n.130+64_130+65insTG
NM_000238.4:c.307+64_307+65insTG MANE Select	NP_000229.1:n.307+64_307+65insTG