Canonical Allele Identifier: CA1752417568

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801433276

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957970_150957972del , CM000669.2:g.150957970_150957972del	GRCh38
NC_000007.13:g.150655058_150655060del , CM000669.1:g.150655058_150655060del	GRCh37
NC_000007.12:g.150285991_150285993del	NCBI36
NG_008916.1:g.24955_24957del , LRG_288:g.24955_24957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1749+87_1749+89del
ENST00000262186.10:c.916+87_916+89del MANE Select	ENSP00000262186.5:n.916+87_916+89del
ENST00000262186.9:c.916+87_916+89del	ENSP00000262186.5:n.916+87_916+89del
ENST00000430723.4:c.568+87_568+89del	ENSP00000387657.4:n.568+87_568+89del
ENST00000532957.5:n.1139+87_1139+89del
NM_000238.3:c.916+87_916+89del , LRG_288t1:c.916+87_916+89del	NP_000229.1:n.916+87_916+89del
NM_172056.2:c.916+87_916+89del , LRG_288t2:c.916+87_916+89del	NP_742053.1:n.916+87_916+89del
XM_011516185.1:c.616+87_616+89del	XP_011514487.1:n.616+87_616+89del
XM_011516186.1:c.916+87_916+89del	XP_011514488.1:n.916+87_916+89del
XM_011516185.2:c.616+87_616+89del	XP_011514487.1:n.616+87_616+89del
XM_011516186.3:c.916+87_916+89del	XP_011514488.1:n.916+87_916+89del
XM_017012195.1:c.766+87_766+89del	XP_016867684.1:n.766+87_766+89del
XM_017012196.1:c.739+87_739+89del	XP_016867685.1:n.739+87_739+89del
NM_000238.4:c.916+87_916+89del MANE Select	NP_000229.1:n.916+87_916+89del