Canonical Allele Identifier: CA2579062815

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957283del , CM000669.2:g.150957283del	GRCh38
NC_000007.13:g.150654371del , CM000669.1:g.150654371del	GRCh37
NC_000007.12:g.150285304del	NCBI36
NG_008916.1:g.25646del , LRG_288:g.25646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1961+10del
ENST00000262186.10:c.1128+10del MANE Select	ENSP00000262186.5:n.1128+10del
ENST00000262186.9:c.1128+10del	ENSP00000262186.5:n.1128+10del
ENST00000430723.4:c.780+10del	ENSP00000387657.4:n.780+10del
ENST00000532957.5:n.1351+10del
NM_000238.3:c.1128+10del , LRG_288t1:c.1128+10del	NP_000229.1:n.1128+10del
NM_172056.2:c.1128+10del , LRG_288t2:c.1128+10del	NP_742053.1:n.1128+10del
XM_011516185.1:c.828+10del	XP_011514487.1:n.828+10del
XM_011516186.1:c.1128+10del	XP_011514488.1:n.1128+10del
XM_011516185.2:c.828+10del	XP_011514487.1:n.828+10del
XM_011516186.3:c.1128+10del	XP_011514488.1:n.1128+10del
XM_017012195.1:c.978+10del	XP_016867684.1:n.978+10del
XM_017012196.1:c.951+10del	XP_016867685.1:n.951+10del
NM_000238.4:c.1128+10del MANE Select	NP_000229.1:n.1128+10del