Canonical Allele Identifier: CA2685603547

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974633-ACGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974634_150974636del , CM000669.2:g.150974634_150974636del	GRCh38
NC_000007.13:g.150671722_150671724del , CM000669.1:g.150671722_150671724del	GRCh37
NC_000007.12:g.150302655_150302657del	NCBI36
NG_008916.1:g.8291_8293del , LRG_288:g.8291_8293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+75_307+77del MANE Select	ENSP00000262186.5:n.307+75_307+77del
ENST00000262186.9:c.307+75_307+77del	ENSP00000262186.5:n.307+75_307+77del
ENST00000430723.4:c.130+75_130+77del	ENSP00000387657.4:n.130+75_130+77del
ENST00000532957.5:n.530+75_530+77del
NM_000238.3:c.307+75_307+77del , LRG_288t1:c.307+75_307+77del	NP_000229.1:n.307+75_307+77del
NM_172056.2:c.307+75_307+77del , LRG_288t2:c.307+75_307+77del	NP_742053.1:n.307+75_307+77del
XM_011516186.1:c.307+75_307+77del	XP_011514488.1:n.307+75_307+77del
XM_011516186.3:c.307+75_307+77del	XP_011514488.1:n.307+75_307+77del
XM_017012196.1:c.130+75_130+77del	XP_016867685.1:n.130+75_130+77del
NM_000238.4:c.307+75_307+77del MANE Select	NP_000229.1:n.307+75_307+77del