Canonical Allele Identifier: CA369858033

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648676A>C (hg19) ; chr7:g.150951588A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951588A>C , CM000669.2:g.150951588A>C	GRCh38
NC_000007.13:g.150648676A>C , CM000669.1:g.150648676A>C	GRCh37
NC_000007.12:g.150279609A>C	NCBI36
NG_008916.1:g.31339T>G , LRG_288:g.31339T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1103T>G
ENST00000684241.1:n.2638T>G
ENST00000262186.10:c.1805T>G MANE Select	ENSP00000262186.5:p.Leu602Arg
ENST00000330883.9:c.785T>G	ENSP00000328531.4:p.Leu262Arg
ENST00000262186.9:c.1805T>G	ENSP00000262186.5:p.Leu602Arg
ENST00000330883.8:c.785T>G	ENSP00000328531.4:p.Leu262Arg
ENST00000430723.4:c.1457T>G	ENSP00000387657.4:p.Leu486Arg
ENST00000461280.1:n.1092T>G
ENST00000473610.5:n.1110T>G
ENST00000532957.5:n.2028T>G
NM_000238.3:c.1805T>G , LRG_288t1:c.1805T>G	NP_000229.1:p.Leu602Arg
NM_001204798.1:c.785T>G	NP_001191727.1:p.Leu262Arg
NM_172056.2:c.1805T>G , LRG_288t2:c.1805T>G	NP_742053.1:p.Leu602Arg
NM_172057.2:c.785T>G , LRG_288t3:c.785T>G	NP_742054.1:p.Leu262Arg
XM_011516185.1:c.1505T>G	XP_011514487.1:p.Leu502Arg
XM_011516186.1:c.1805T>G	XP_011514488.1:p.Leu602Arg
XM_011516185.2:c.1505T>G	XP_011514487.1:p.Leu502Arg
XM_011516186.3:c.1805T>G	XP_011514488.1:p.Leu602Arg
XM_017012195.1:c.1655T>G	XP_016867684.1:p.Leu552Arg
XM_017012196.1:c.1628T>G	XP_016867685.1:p.Leu543Arg
NM_000238.4:c.1805T>G MANE Select	NP_000229.1:p.Leu602Arg
NM_001204798.2:c.785T>G	NP_001191727.1:p.Leu262Arg
NM_172057.3:c.785T>G	NP_742054.1:p.Leu262Arg