Canonical Allele Identifier: CA2580077799

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2088283
• ClinVar RCV Id: RCV003018064

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951471_150951473del , CM000669.2:g.150951471_150951473del	GRCh38
NC_000007.13:g.150648559_150648561del , CM000669.1:g.150648559_150648561del	GRCh37
NC_000007.12:g.150279492_150279494del	NCBI36
NG_008916.1:g.31455_31457del , LRG_288:g.31455_31457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1219_1221del
ENST00000683359.1:n.45_47del
ENST00000684241.1:n.2754_2756del
ENST00000262186.10:c.1921_1923del MANE Select	ENSP00000262186.5:p.Ser641del
ENST00000330883.9:c.901_903del	ENSP00000328531.4:p.Ser301del
ENST00000262186.9:c.1921_1923del	ENSP00000262186.5:p.Ser641del
ENST00000330883.8:c.901_903del	ENSP00000328531.4:p.Ser301del
ENST00000430723.4:c.1573_1575del	ENSP00000387657.4:p.Ser525del
ENST00000461280.1:n.1208_1210del
ENST00000473610.5:n.1226_1228del
ENST00000532957.5:n.2144_2146del
NM_000238.3:c.1921_1923del , LRG_288t1:c.1921_1923del	NP_000229.1:p.Ser641del
NM_001204798.1:c.901_903del	NP_001191727.1:p.Ser301del
NM_172056.2:c.1921_1923del , LRG_288t2:c.1921_1923del	NP_742053.1:p.Ser641del
NM_172057.2:c.901_903del , LRG_288t3:c.901_903del	NP_742054.1:p.Ser301del
XM_011516185.1:c.1621_1623del	XP_011514487.1:p.Ser541del
XM_011516186.1:c.1921_1923del	XP_011514488.1:p.Ser641del
XM_011516185.2:c.1621_1623del	XP_011514487.1:p.Ser541del
XM_011516186.3:c.1921_1923del	XP_011514488.1:p.Ser641del
XM_017012195.1:c.1771_1773del	XP_016867684.1:p.Ser591del
XM_017012196.1:c.1744_1746del	XP_016867685.1:p.Ser582del
NM_000238.4:c.1921_1923del MANE Select	NP_000229.1:p.Ser641del
NM_001204798.2:c.901_903del	NP_001191727.1:p.Ser301del
NM_172057.3:c.901_903del	NP_742054.1:p.Ser301del