Canonical Allele Identifier: CA1752410275

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951657A= , CM000669.2:g.150951657A=	GRCh38
NC_000007.13:g.150648745A= , CM000669.1:g.150648745A=	GRCh37
NC_000007.12:g.150279678A=	NCBI36
NG_008916.1:g.31270T= , LRG_288:g.31270T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1034T=
ENST00000684241.1:n.2569T=
ENST00000262186.10:c.1736T= MANE Select	ENSP00000262186.5:p.Met579=
ENST00000330883.9:c.716T=	ENSP00000328531.4:p.Met239=
ENST00000262186.9:c.1736T=	ENSP00000262186.5:p.Met579=
ENST00000330883.8:c.716T=	ENSP00000328531.4:p.Met239=
ENST00000430723.4:c.1388T=	ENSP00000387657.4:p.Met463=
ENST00000461280.1:n.1023T=
ENST00000473610.5:n.1041T=
ENST00000532957.5:n.1959T=
NM_000238.3:c.1736T= , LRG_288t1:c.1736T=	NP_000229.1:p.Met579=
NM_001204798.1:c.716T=	NP_001191727.1:p.Met239=
NM_172056.2:c.1736T= , LRG_288t2:c.1736T=	NP_742053.1:p.Met579=
NM_172057.2:c.716T= , LRG_288t3:c.716T=	NP_742054.1:p.Met239=
XM_011516185.1:c.1436T=	XP_011514487.1:p.Met479=
XM_011516186.1:c.1736T=	XP_011514488.1:p.Met579=
XM_011516185.2:c.1436T=	XP_011514487.1:p.Met479=
XM_011516186.3:c.1736T=	XP_011514488.1:p.Met579=
XM_017012195.1:c.1586T=	XP_016867684.1:p.Met529=
XM_017012196.1:c.1559T=	XP_016867685.1:p.Met520=
NM_000238.4:c.1736T= MANE Select	NP_000229.1:p.Met579=
NM_001204798.2:c.716T=	NP_001191727.1:p.Met239=
NM_172057.3:c.716T=	NP_742054.1:p.Met239=