Canonical Allele Identifier: CA1752461243

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801921639

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974551_150974552del , CM000669.2:g.150974551_150974552del	GRCh38
NC_000007.13:g.150671639_150671640del , CM000669.1:g.150671639_150671640del	GRCh37
NC_000007.12:g.150302572_150302573del	NCBI36
NG_008916.1:g.8376_8377del , LRG_288:g.8376_8377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+160_307+161del MANE Select	ENSP00000262186.5:n.307+160_307+161del
ENST00000262186.9:c.307+160_307+161del	ENSP00000262186.5:n.307+160_307+161del
ENST00000430723.4:c.130+160_130+161del	ENSP00000387657.4:n.130+160_130+161del
ENST00000532957.5:n.530+160_530+161del
NM_000238.3:c.307+160_307+161del , LRG_288t1:c.307+160_307+161del	NP_000229.1:n.307+160_307+161del
NM_172056.2:c.307+160_307+161del , LRG_288t2:c.307+160_307+161del	NP_742053.1:n.307+160_307+161del
XM_011516186.1:c.307+160_307+161del	XP_011514488.1:n.307+160_307+161del
XM_011516186.3:c.307+160_307+161del	XP_011514488.1:n.307+160_307+161del
XM_017012196.1:c.130+160_130+161del	XP_016867685.1:n.130+160_130+161del
NM_000238.4:c.307+160_307+161del MANE Select	NP_000229.1:n.307+160_307+161del