Canonical Allele Identifier: CA2685608286

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150951601-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951602dup , CM000669.2:g.150951602dup	GRCh38
NC_000007.13:g.150648690dup , CM000669.1:g.150648690dup	GRCh37
NC_000007.12:g.150279623dup	NCBI36
NG_008916.1:g.31325dup , LRG_288:g.31325dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1089dup
ENST00000684241.1:n.2624dup
ENST00000262186.10:c.1791dup MANE Select	ENSP00000262186.5:p.Asn598GlnfsTer?
ENST00000330883.9:c.771dup	ENSP00000328531.4:p.Asn258GlnfsTer?
ENST00000262186.9:c.1791dup	ENSP00000262186.5:p.Asn598GlnfsTer?
ENST00000330883.8:c.771dup	ENSP00000328531.4:p.Asn258GlnfsTer?
ENST00000430723.4:c.1443dup	ENSP00000387657.4:p.Asn482GlnfsTer?
ENST00000461280.1:n.1078dup
ENST00000473610.5:n.1096dup
ENST00000532957.5:n.2014dup
NM_000238.3:c.1791dup , LRG_288t1:c.1791dup	NP_000229.1:p.Asn598GlnfsTer?
NM_001204798.1:c.771dup	NP_001191727.1:p.Asn258GlnfsTer?
NM_172056.2:c.1791dup , LRG_288t2:c.1791dup	NP_742053.1:p.Asn598GlnfsTer?
NM_172057.2:c.771dup , LRG_288t3:c.771dup	NP_742054.1:p.Asn258GlnfsTer?
XM_011516185.1:c.1491dup	XP_011514487.1:p.Asn498GlnfsTer?
XM_011516186.1:c.1791dup	XP_011514488.1:p.Asn598GlnfsTer?
XM_011516185.2:c.1491dup	XP_011514487.1:p.Asn498GlnfsTer?
XM_011516186.3:c.1791dup	XP_011514488.1:p.Asn598GlnfsTer?
XM_017012195.1:c.1641dup	XP_016867684.1:p.Asn548GlnfsTer?
XM_017012196.1:c.1614dup	XP_016867685.1:p.Asn539GlnfsTer?
NM_000238.4:c.1791dup MANE Select	NP_000229.1:p.Asn598GlnfsTer?
NM_001204798.2:c.771dup	NP_001191727.1:p.Asn258GlnfsTer?
NM_172057.3:c.771dup	NP_742054.1:p.Asn258GlnfsTer?