Canonical Allele Identifier: CA2507071176

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950028G>A , CM000669.2:g.150950028G>A	GRCh38
NC_000007.13:g.150647116G>A , CM000669.1:g.150647116G>A	GRCh37
NC_000007.12:g.150278049G>A	NCBI36
NG_008916.1:g.32899C>T , LRG_288:g.32899C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1836C>T
ENST00000684241.1:n.3231+140C>T
ENST00000262186.10:c.2398+140C>T MANE Select	ENSP00000262186.5:n.2398+140C>T
ENST00000330883.9:c.1378+140C>T	ENSP00000328531.4:n.1378+140C>T
ENST00000262186.9:c.2398+140C>T	ENSP00000262186.5:n.2398+140C>T
ENST00000330883.8:c.1378+140C>T	ENSP00000328531.4:n.1378+140C>T
ENST00000430723.4:c.2190C>T	ENSP00000387657.4:p.Asn730=
ENST00000461280.1:n.1825C>T
ENST00000473610.5:n.2170C>T
ENST00000532957.5:n.2761C>T
NM_000238.3:c.2398+140C>T , LRG_288t1:c.2398+140C>T	NP_000229.1:n.2398+140C>T
NM_001204798.1:c.1518C>T	NP_001191727.1:p.Asn506=
NM_172056.2:c.2538C>T , LRG_288t2:c.2538C>T	NP_742053.1:p.Asn846=
NM_172057.2:c.1378+140C>T , LRG_288t3:c.1378+140C>T	NP_742054.1:n.1378+140C>T
XM_011516185.1:c.2098+140C>T	XP_011514487.1:n.2098+140C>T
XM_011516186.1:c.2398+140C>T	XP_011514488.1:n.2398+140C>T
XM_011516185.2:c.2098+140C>T	XP_011514487.1:n.2098+140C>T
XM_011516186.3:c.2398+140C>T	XP_011514488.1:n.2398+140C>T
XM_017012195.1:c.2248+140C>T	XP_016867684.1:n.2248+140C>T
XM_017012196.1:c.2221+140C>T	XP_016867685.1:n.2221+140C>T
NM_000238.4:c.2398+140C>T MANE Select	NP_000229.1:n.2398+140C>T
NM_001204798.2:c.1518C>T	NP_001191727.1:p.Asn506=
NM_172057.3:c.1378+140C>T	NP_742054.1:n.1378+140C>T