Canonical Allele Identifier: CA2695208742

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952699del , CM000669.2:g.150952699del	GRCh38
NC_000007.13:g.150649787del , CM000669.1:g.150649787del	GRCh37
NC_000007.12:g.150280720del	NCBI36
NG_008916.1:g.30228del , LRG_288:g.30228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.581del
ENST00000684116.1:n.176del
ENST00000684241.1:n.2116del
ENST00000262186.10:c.1283del MANE Select	ENSP00000262186.5:p.Ser428TrpfsTer6
ENST00000330883.9:c.263del	ENSP00000328531.4:p.Ser88TrpfsTer6
ENST00000262186.9:c.1283del	ENSP00000262186.5:p.Ser428TrpfsTer6
ENST00000330883.8:c.263del	ENSP00000328531.4:p.Ser88TrpfsTer6
ENST00000430723.4:c.935del	ENSP00000387657.4:p.Ser312TrpfsTer6
ENST00000461280.1:n.570del
ENST00000473610.5:n.588del
ENST00000532957.5:n.1506del
NM_000238.3:c.1283del , LRG_288t1:c.1283del	NP_000229.1:p.Ser428TrpfsTer6
NM_001204798.1:c.263del	NP_001191727.1:p.Ser88TrpfsTer6
NM_172056.2:c.1283del , LRG_288t2:c.1283del	NP_742053.1:p.Ser428TrpfsTer6
NM_172057.2:c.263del , LRG_288t3:c.263del	NP_742054.1:p.Ser88TrpfsTer6
XM_011516185.1:c.983del	XP_011514487.1:p.Ser328TrpfsTer6
XM_011516186.1:c.1283del	XP_011514488.1:p.Ser428TrpfsTer6
XM_011516185.2:c.983del	XP_011514487.1:p.Ser328TrpfsTer6
XM_011516186.3:c.1283del	XP_011514488.1:p.Ser428TrpfsTer6
XM_017012195.1:c.1133del	XP_016867684.1:p.Ser378TrpfsTer6
XM_017012196.1:c.1106del	XP_016867685.1:p.Ser369TrpfsTer6
NM_000238.4:c.1283del MANE Select	NP_000229.1:p.Ser428TrpfsTer6
NM_001204798.2:c.263del	NP_001191727.1:p.Ser88TrpfsTer6
NM_172057.3:c.263del	NP_742054.1:p.Ser88TrpfsTer6