Canonical Allele Identifier: CA1752410268

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951654T= , CM000669.2:g.150951654T=	GRCh38
NC_000007.13:g.150648742T= , CM000669.1:g.150648742T=	GRCh37
NC_000007.12:g.150279675T=	NCBI36
NG_008916.1:g.31273A= , LRG_288:g.31273A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1037A=
ENST00000684241.1:n.2572A=
ENST00000262186.10:c.1739A= MANE Select	ENSP00000262186.5:p.Asp580=
ENST00000330883.9:c.719A=	ENSP00000328531.4:p.Asp240=
ENST00000262186.9:c.1739A=	ENSP00000262186.5:p.Asp580=
ENST00000330883.8:c.719A=	ENSP00000328531.4:p.Asp240=
ENST00000430723.4:c.1391A=	ENSP00000387657.4:p.Asp464=
ENST00000461280.1:n.1026A=
ENST00000473610.5:n.1044A=
ENST00000532957.5:n.1962A=
NM_000238.3:c.1739A= , LRG_288t1:c.1739A=	NP_000229.1:p.Asp580=
NM_001204798.1:c.719A=	NP_001191727.1:p.Asp240=
NM_172056.2:c.1739A= , LRG_288t2:c.1739A=	NP_742053.1:p.Asp580=
NM_172057.2:c.719A= , LRG_288t3:c.719A=	NP_742054.1:p.Asp240=
XM_011516185.1:c.1439A=	XP_011514487.1:p.Asp480=
XM_011516186.1:c.1739A=	XP_011514488.1:p.Asp580=
XM_011516185.2:c.1439A=	XP_011514487.1:p.Asp480=
XM_011516186.3:c.1739A=	XP_011514488.1:p.Asp580=
XM_017012195.1:c.1589A=	XP_016867684.1:p.Asp530=
XM_017012196.1:c.1562A=	XP_016867685.1:p.Asp521=
NM_000238.4:c.1739A= MANE Select	NP_000229.1:p.Asp580=
NM_001204798.2:c.719A=	NP_001191727.1:p.Asp240=
NM_172057.3:c.719A=	NP_742054.1:p.Asp240=