Canonical Allele Identifier: CA2695208646

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958414_150958415del , CM000669.2:g.150958414_150958415del	GRCh38
NC_000007.13:g.150655502_150655503del , CM000669.1:g.150655502_150655503del	GRCh37
NC_000007.12:g.150286435_150286436del	NCBI36
NG_008916.1:g.24515_24516del , LRG_288:g.24515_24516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1396_1397del
ENST00000262186.10:c.563_564del MANE Select	ENSP00000262186.5:p.Ala188GlyfsTer?
ENST00000262186.9:c.563_564del	ENSP00000262186.5:p.Ala188GlyfsTer?
ENST00000430723.4:c.235-20_235-19del	ENSP00000387657.4:n.235-20_235-19del
ENST00000532957.5:n.786_787del
NM_000238.3:c.563_564del , LRG_288t1:c.563_564del	NP_000229.1:p.Ala188GlyfsTer?
NM_172056.2:c.563_564del , LRG_288t2:c.563_564del	NP_742053.1:p.Ala188GlyfsTer?
XM_011516185.1:c.263_264del	XP_011514487.1:p.Ala88GlyfsTer?
XM_011516186.1:c.563_564del	XP_011514488.1:p.Ala188GlyfsTer?
XM_011516185.2:c.263_264del	XP_011514487.1:p.Ala88GlyfsTer?
XM_011516186.3:c.563_564del	XP_011514488.1:p.Ala188GlyfsTer?
XM_017012195.1:c.413_414del	XP_016867684.1:p.Ala138GlyfsTer?
XM_017012196.1:c.386_387del	XP_016867685.1:p.Ala129GlyfsTer?
NM_000238.4:c.563_564del MANE Select	NP_000229.1:p.Ala188GlyfsTer?