Canonical Allele Identifier: CA369856071

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647309A>C (hg19) ; chr7:g.150950221A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950221A>C , CM000669.2:g.150950221A>C	GRCh38
NC_000007.13:g.150647309A>C , CM000669.1:g.150647309A>C	GRCh37
NC_000007.12:g.150278242A>C	NCBI36
NG_008916.1:g.32706T>G , LRG_288:g.32706T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1643T>G
ENST00000684241.1:n.3178T>G
ENST00000262186.10:c.2345T>G MANE Select	ENSP00000262186.5:p.Ile782Ser
ENST00000330883.9:c.1325T>G	ENSP00000328531.4:p.Ile442Ser
ENST00000262186.9:c.2345T>G	ENSP00000262186.5:p.Ile782Ser
ENST00000330883.8:c.1325T>G	ENSP00000328531.4:p.Ile442Ser
ENST00000430723.4:c.1997T>G	ENSP00000387657.4:p.Ile666Ser
ENST00000461280.1:n.1632T>G
ENST00000473610.5:n.1977T>G
ENST00000532957.5:n.2568T>G
NM_000238.3:c.2345T>G , LRG_288t1:c.2345T>G	NP_000229.1:p.Ile782Ser
NM_001204798.1:c.1325T>G	NP_001191727.1:p.Ile442Ser
NM_172056.2:c.2345T>G , LRG_288t2:c.2345T>G	NP_742053.1:p.Ile782Ser
NM_172057.2:c.1325T>G , LRG_288t3:c.1325T>G	NP_742054.1:p.Ile442Ser
XM_011516185.1:c.2045T>G	XP_011514487.1:p.Ile682Ser
XM_011516186.1:c.2345T>G	XP_011514488.1:p.Ile782Ser
XM_011516185.2:c.2045T>G	XP_011514487.1:p.Ile682Ser
XM_011516186.3:c.2345T>G	XP_011514488.1:p.Ile782Ser
XM_017012195.1:c.2195T>G	XP_016867684.1:p.Ile732Ser
XM_017012196.1:c.2168T>G	XP_016867685.1:p.Ile723Ser
NM_000238.4:c.2345T>G MANE Select	NP_000229.1:p.Ile782Ser
NM_001204798.2:c.1325T>G	NP_001191727.1:p.Ile442Ser
NM_172057.3:c.1325T>G	NP_742054.1:p.Ile442Ser