Canonical Allele Identifier: CA2778425855

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958128_150958129del , CM000669.2:g.150958128_150958129del	GRCh38
NC_000007.13:g.150655216_150655217del , CM000669.1:g.150655216_150655217del	GRCh37
NC_000007.12:g.150286149_150286150del	NCBI36
NG_008916.1:g.24799_24800del , LRG_288:g.24799_24800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1680_1681del
ENST00000262186.10:c.847_848del MANE Select	ENSP00000262186.5:p.Ser283ValfsTer?
ENST00000262186.9:c.847_848del	ENSP00000262186.5:p.Ser283ValfsTer?
ENST00000430723.4:c.499_500del	ENSP00000387657.4:p.Ser167ValfsTer?
ENST00000532957.5:n.1070_1071del
NM_000238.3:c.847_848del , LRG_288t1:c.847_848del	NP_000229.1:p.Ser283ValfsTer?
NM_172056.2:c.847_848del , LRG_288t2:c.847_848del	NP_742053.1:p.Ser283ValfsTer?
XM_011516185.1:c.547_548del	XP_011514487.1:p.Ser183ValfsTer?
XM_011516186.1:c.847_848del	XP_011514488.1:p.Ser283ValfsTer?
XM_011516185.2:c.547_548del	XP_011514487.1:p.Ser183ValfsTer?
XM_011516186.3:c.847_848del	XP_011514488.1:p.Ser283ValfsTer?
XM_017012195.1:c.697_698del	XP_016867684.1:p.Ser233ValfsTer?
XM_017012196.1:c.670_671del	XP_016867685.1:p.Ser224ValfsTer?
NM_000238.4:c.847_848del MANE Select	NP_000229.1:p.Ser283ValfsTer?