Canonical Allele Identifier: CA1752434438

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951097_150951098delinsCG , CM000669.2:g.150951097_150951098delinsCG	GRCh38
NC_000007.13:g.150648185_150648186delinsCG , CM000669.1:g.150648185_150648186delinsCG	GRCh37
NC_000007.12:g.150279118_150279119delinsCG	NCBI36
NG_008916.1:g.31829_31830delinsCG , LRG_288:g.31829_31830delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1266_1267delinsCG
ENST00000683359.1:n.92_93delinsCG
ENST00000684241.1:n.2801_2802delinsCG
ENST00000262186.10:c.1968_1969delinsCG MANE Select	ENSP00000262186.5:p.Phe656=
ENST00000330883.9:c.948_949delinsCG	ENSP00000328531.4:p.Phe316=
ENST00000262186.9:c.1968_1969delinsCG	ENSP00000262186.5:p.Phe656=
ENST00000330883.8:c.948_949delinsCG	ENSP00000328531.4:p.Phe316=
ENST00000430723.4:c.1620_1621delinsCG	ENSP00000387657.4:p.Phe540=
ENST00000461280.1:n.1255_1256delinsCG
ENST00000473610.5:n.1600_1601delinsCG
ENST00000532957.5:n.2191_2192delinsCG
NM_000238.3:c.1968_1969delinsCG , LRG_288t1:c.1968_1969delinsCG	NP_000229.1:p.Phe656=
NM_001204798.1:c.948_949delinsCG	NP_001191727.1:p.Phe316=
NM_172056.2:c.1968_1969delinsCG , LRG_288t2:c.1968_1969delinsCG	NP_742053.1:p.Phe656=
NM_172057.2:c.948_949delinsCG , LRG_288t3:c.948_949delinsCG	NP_742054.1:p.Phe316=
XM_011516185.1:c.1668_1669delinsCG	XP_011514487.1:p.Phe556=
XM_011516186.1:c.1968_1969delinsCG	XP_011514488.1:p.Phe656=
XM_011516185.2:c.1668_1669delinsCG	XP_011514487.1:p.Phe556=
XM_011516186.3:c.1968_1969delinsCG	XP_011514488.1:p.Phe656=
XM_017012195.1:c.1818_1819delinsCG	XP_016867684.1:p.Phe606=
XM_017012196.1:c.1791_1792delinsCG	XP_016867685.1:p.Phe597=
NM_000238.4:c.1968_1969delinsCG MANE Select	NP_000229.1:p.Phe656=
NM_001204798.2:c.948_949delinsCG	NP_001191727.1:p.Phe316=
NM_172057.3:c.948_949delinsCG	NP_742054.1:p.Phe316=