Canonical Allele Identifier: CA2695208746

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952748_150952750delinsTTCAAA , CM000669.2:g.150952748_150952750delinsTTCAAA	GRCh38
NC_000007.13:g.150649836_150649838delinsTTCAAA , CM000669.1:g.150649836_150649838delinsTTCAAA	GRCh37
NC_000007.12:g.150280769_150280771delinsTTCAAA	NCBI36
NG_008916.1:g.30177_30179delinsTTTGAA , LRG_288:g.30177_30179delinsTTTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.530_532delinsTTTGAA
ENST00000684116.1:n.125_127delinsTTTGAA
ENST00000684241.1:n.2065_2067delinsTTTGAA
ENST00000262186.10:c.1232_1234delinsTTTGAA MANE Select	ENSP00000262186.5:p.Asp411ValfsTer2
ENST00000330883.9:c.212_214delinsTTTGAA	ENSP00000328531.4:p.Asp71ValfsTer2
ENST00000262186.9:c.1232_1234delinsTTTGAA	ENSP00000262186.5:p.Asp411ValfsTer2
ENST00000330883.8:c.212_214delinsTTTGAA	ENSP00000328531.4:p.Asp71ValfsTer2
ENST00000430723.4:c.884_886delinsTTTGAA	ENSP00000387657.4:p.Asp295ValfsTer2
ENST00000461280.1:n.519_521delinsTTTGAA
ENST00000473610.5:n.537_539delinsTTTGAA
ENST00000532957.5:n.1455_1457delinsTTTGAA
NM_000238.3:c.1232_1234delinsTTTGAA , LRG_288t1:c.1232_1234delinsTTTGAA	NP_000229.1:p.Asp411ValfsTer2
NM_001204798.1:c.212_214delinsTTTGAA	NP_001191727.1:p.Asp71ValfsTer2
NM_172056.2:c.1232_1234delinsTTTGAA , LRG_288t2:c.1232_1234delinsTTTGAA	NP_742053.1:p.Asp411ValfsTer2
NM_172057.2:c.212_214delinsTTTGAA , LRG_288t3:c.212_214delinsTTTGAA	NP_742054.1:p.Asp71ValfsTer2
XM_011516185.1:c.932_934delinsTTTGAA	XP_011514487.1:p.Asp311ValfsTer2
XM_011516186.1:c.1232_1234delinsTTTGAA	XP_011514488.1:p.Asp411ValfsTer2
XM_011516185.2:c.932_934delinsTTTGAA	XP_011514487.1:p.Asp311ValfsTer2
XM_011516186.3:c.1232_1234delinsTTTGAA	XP_011514488.1:p.Asp411ValfsTer2
XM_017012195.1:c.1082_1084delinsTTTGAA	XP_016867684.1:p.Asp361ValfsTer2
XM_017012196.1:c.1055_1057delinsTTTGAA	XP_016867685.1:p.Asp352ValfsTer2
NM_000238.4:c.1232_1234delinsTTTGAA MANE Select	NP_000229.1:p.Asp411ValfsTer2
NM_001204798.2:c.212_214delinsTTTGAA	NP_001191727.1:p.Asp71ValfsTer2
NM_172057.3:c.212_214delinsTTTGAA	NP_742054.1:p.Asp71ValfsTer2