Canonical Allele Identifier: CA369858052

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648686T>A (hg19) ; chr7:g.150951598T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951598T>A , CM000669.2:g.150951598T>A	GRCh38
NC_000007.13:g.150648686T>A , CM000669.1:g.150648686T>A	GRCh37
NC_000007.12:g.150279619T>A	NCBI36
NG_008916.1:g.31329A>T , LRG_288:g.31329A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1093A>T
ENST00000684241.1:n.2628A>T
ENST00000262186.10:c.1795A>T MANE Select	ENSP00000262186.5:p.Ser599Cys
ENST00000330883.9:c.775A>T	ENSP00000328531.4:p.Ser259Cys
ENST00000262186.9:c.1795A>T	ENSP00000262186.5:p.Ser599Cys
ENST00000330883.8:c.775A>T	ENSP00000328531.4:p.Ser259Cys
ENST00000430723.4:c.1447A>T	ENSP00000387657.4:p.Ser483Cys
ENST00000461280.1:n.1082A>T
ENST00000473610.5:n.1100A>T
ENST00000532957.5:n.2018A>T
NM_000238.3:c.1795A>T , LRG_288t1:c.1795A>T	NP_000229.1:p.Ser599Cys
NM_001204798.1:c.775A>T	NP_001191727.1:p.Ser259Cys
NM_172056.2:c.1795A>T , LRG_288t2:c.1795A>T	NP_742053.1:p.Ser599Cys
NM_172057.2:c.775A>T , LRG_288t3:c.775A>T	NP_742054.1:p.Ser259Cys
XM_011516185.1:c.1495A>T	XP_011514487.1:p.Ser499Cys
XM_011516186.1:c.1795A>T	XP_011514488.1:p.Ser599Cys
XM_011516185.2:c.1495A>T	XP_011514487.1:p.Ser499Cys
XM_011516186.3:c.1795A>T	XP_011514488.1:p.Ser599Cys
XM_017012195.1:c.1645A>T	XP_016867684.1:p.Ser549Cys
XM_017012196.1:c.1618A>T	XP_016867685.1:p.Ser540Cys
NM_000238.4:c.1795A>T MANE Select	NP_000229.1:p.Ser599Cys
NM_001204798.2:c.775A>T	NP_001191727.1:p.Ser259Cys
NM_172057.3:c.775A>T	NP_742054.1:p.Ser259Cys