Canonical Allele Identifier: CA1752461171

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801920267

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974504_150974510del , CM000669.2:g.150974504_150974510del	GRCh38
NC_000007.13:g.150671592_150671598del , CM000669.1:g.150671592_150671598del	GRCh37
NC_000007.12:g.150302525_150302531del	NCBI36
NG_008916.1:g.8418_8424del , LRG_288:g.8418_8424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+202_307+208del MANE Select	ENSP00000262186.5:n.307+202_307+208del
ENST00000262186.9:c.307+202_307+208del	ENSP00000262186.5:n.307+202_307+208del
ENST00000430723.4:c.130+202_130+208del	ENSP00000387657.4:n.130+202_130+208del
ENST00000532957.5:n.530+202_530+208del
NM_000238.3:c.307+202_307+208del , LRG_288t1:c.307+202_307+208del	NP_000229.1:n.307+202_307+208del
NM_172056.2:c.307+202_307+208del , LRG_288t2:c.307+202_307+208del	NP_742053.1:n.307+202_307+208del
XM_011516186.1:c.307+202_307+208del	XP_011514488.1:n.307+202_307+208del
XM_011516186.3:c.307+202_307+208del	XP_011514488.1:n.307+202_307+208del
XM_017012196.1:c.130+202_130+208del	XP_016867685.1:n.130+202_130+208del
NM_000238.4:c.307+202_307+208del MANE Select	NP_000229.1:n.307+202_307+208del