Canonical Allele Identifier: CA369860161

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649838T>C (hg19) ; chr7:g.150952750T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952750T>C , CM000669.2:g.150952750T>C	GRCh38
NC_000007.13:g.150649838T>C , CM000669.1:g.150649838T>C	GRCh37
NC_000007.12:g.150280771T>C	NCBI36
NG_008916.1:g.30177A>G , LRG_288:g.30177A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.530A>G
ENST00000684116.1:n.125A>G
ENST00000684241.1:n.2065A>G
ENST00000262186.10:c.1232A>G MANE Select	ENSP00000262186.5:p.Asp411Gly
ENST00000330883.9:c.212A>G	ENSP00000328531.4:p.Asp71Gly
ENST00000262186.9:c.1232A>G	ENSP00000262186.5:p.Asp411Gly
ENST00000330883.8:c.212A>G	ENSP00000328531.4:p.Asp71Gly
ENST00000430723.4:c.884A>G	ENSP00000387657.4:p.Asp295Gly
ENST00000461280.1:n.519A>G
ENST00000473610.5:n.537A>G
ENST00000532957.5:n.1455A>G
NM_000238.3:c.1232A>G , LRG_288t1:c.1232A>G	NP_000229.1:p.Asp411Gly
NM_001204798.1:c.212A>G	NP_001191727.1:p.Asp71Gly
NM_172056.2:c.1232A>G , LRG_288t2:c.1232A>G	NP_742053.1:p.Asp411Gly
NM_172057.2:c.212A>G , LRG_288t3:c.212A>G	NP_742054.1:p.Asp71Gly
XM_011516185.1:c.932A>G	XP_011514487.1:p.Asp311Gly
XM_011516186.1:c.1232A>G	XP_011514488.1:p.Asp411Gly
XM_011516185.2:c.932A>G	XP_011514487.1:p.Asp311Gly
XM_011516186.3:c.1232A>G	XP_011514488.1:p.Asp411Gly
XM_017012195.1:c.1082A>G	XP_016867684.1:p.Asp361Gly
XM_017012196.1:c.1055A>G	XP_016867685.1:p.Asp352Gly
NM_000238.4:c.1232A>G MANE Select	NP_000229.1:p.Asp411Gly
NM_001204798.2:c.212A>G	NP_001191727.1:p.Asp71Gly
NM_172057.3:c.212A>G	NP_742054.1:p.Asp71Gly