Canonical Allele Identifier: CA1752445646

Gene: KCNH2

Linked Data

• dbSNP Id: rs1802007466

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977612_150977619del , CM000669.2:g.150977612_150977619del	GRCh38
NC_000007.13:g.150674700_150674707del , CM000669.1:g.150674700_150674707del	GRCh37
NC_000007.12:g.150305633_150305640del	NCBI36
NG_008916.1:g.5308_5315del , LRG_288:g.5308_5315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+219_76+226del MANE Select	ENSP00000262186.5:n.76+219_76+226del
ENST00000262186.9:c.76+219_76+226del	ENSP00000262186.5:n.76+219_76+226del
ENST00000430723.4:c.-102+219_-102+226del	ENSP00000387657.4:n.-102+219_-102+226del
ENST00000532957.5:n.299+219_299+226del
NM_000238.3:c.76+219_76+226del , LRG_288t1:c.76+219_76+226del	NP_000229.1:n.76+219_76+226del
NM_172056.2:c.76+219_76+226del , LRG_288t2:c.76+219_76+226del	NP_742053.1:n.76+219_76+226del
XM_011516186.1:c.76+219_76+226del	XP_011514488.1:n.76+219_76+226del
XM_011516186.3:c.76+219_76+226del	XP_011514488.1:n.76+219_76+226del
NM_000238.4:c.76+219_76+226del MANE Select	NP_000229.1:n.76+219_76+226del