Canonical Allele Identifier: CA369857960

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951545G>C , CM000669.2:g.150951545G>C	GRCh38
NC_000007.13:g.150648633G>C , CM000669.1:g.150648633G>C	GRCh37
NC_000007.12:g.150279566G>C	NCBI36
NG_008916.1:g.31382C>G , LRG_288:g.31382C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1848C>G MANE Select	NP_000229.1:p.Tyr616Ter
ENST00000262186.10:c.1848C>G MANE Select	ENSP00000262186.5:p.Tyr616Ter
NM_000238.3:c.1848C>G , LRG_288t1:c.1848C>G	NP_000229.1:p.Tyr616Ter
NM_001204798.1:c.828C>G	NP_001191727.1:p.Tyr276Ter
NM_001204798.2:c.828C>G	NP_001191727.1:p.Tyr276Ter
NM_172056.2:c.1848C>G , LRG_288t2:c.1848C>G	NP_742053.1:p.Tyr616Ter
NM_172057.2:c.828C>G , LRG_288t3:c.828C>G	NP_742054.1:p.Tyr276Ter
NM_172057.3:c.828C>G	NP_742054.1:p.Tyr276Ter
ENST00000262186.9:c.1848C>G	ENSP00000262186.5:p.Tyr616Ter
ENST00000330883.8:c.828C>G	ENSP00000328531.4:p.Tyr276Ter
ENST00000330883.9:c.828C>G	ENSP00000328531.4:p.Tyr276Ter
ENST00000430723.4:c.1500C>G	ENSP00000387657.4:p.Tyr500Ter
ENST00000461280.1:n.1135C>G
ENST00000461280.2:n.1146C>G
ENST00000473610.5:n.1153C>G
ENST00000532957.5:n.2071C>G
ENST00000684241.1:n.2681C>G
XM_011516185.1:c.1548C>G	XP_011514487.1:p.Tyr516Ter
XM_011516185.2:c.1548C>G	XP_011514487.1:p.Tyr516Ter
XM_011516186.1:c.1848C>G	XP_011514488.1:p.Tyr616Ter
XM_011516186.3:c.1848C>G	XP_011514488.1:p.Tyr616Ter
XM_017012195.1:c.1698C>G	XP_016867684.1:p.Tyr566Ter
XM_017012196.1:c.1671C>G	XP_016867685.1:p.Tyr557Ter