Canonical Allele Identifier: CA2580614285

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2136627
• ClinVar RCV Id: RCV003037270

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951475_150951477del , CM000669.2:g.150951475_150951477del	GRCh38
NC_000007.13:g.150648563_150648565del , CM000669.1:g.150648563_150648565del	GRCh37
NC_000007.12:g.150279496_150279498del	NCBI36
NG_008916.1:g.31453_31455del , LRG_288:g.31453_31455del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1217_1219del
ENST00000683359.1:n.43_45del
ENST00000684241.1:n.2752_2754del
ENST00000262186.10:c.1919_1921del MANE Select	ENSP00000262186.5:p.Phe640del
ENST00000330883.9:c.899_901del	ENSP00000328531.4:p.Phe300del
ENST00000262186.9:c.1919_1921del	ENSP00000262186.5:p.Phe640del
ENST00000330883.8:c.899_901del	ENSP00000328531.4:p.Phe300del
ENST00000430723.4:c.1571_1573del	ENSP00000387657.4:p.Phe524del
ENST00000461280.1:n.1206_1208del
ENST00000473610.5:n.1224_1226del
ENST00000532957.5:n.2142_2144del
NM_000238.3:c.1919_1921del , LRG_288t1:c.1919_1921del	NP_000229.1:p.Phe640del
NM_001204798.1:c.899_901del	NP_001191727.1:p.Phe300del
NM_172056.2:c.1919_1921del , LRG_288t2:c.1919_1921del	NP_742053.1:p.Phe640del
NM_172057.2:c.899_901del , LRG_288t3:c.899_901del	NP_742054.1:p.Phe300del
XM_011516185.1:c.1619_1621del	XP_011514487.1:p.Phe540del
XM_011516186.1:c.1919_1921del	XP_011514488.1:p.Phe640del
XM_011516185.2:c.1619_1621del	XP_011514487.1:p.Phe540del
XM_011516186.3:c.1919_1921del	XP_011514488.1:p.Phe640del
XM_017012195.1:c.1769_1771del	XP_016867684.1:p.Phe590del
XM_017012196.1:c.1742_1744del	XP_016867685.1:p.Phe581del
NM_000238.4:c.1919_1921del MANE Select	NP_000229.1:p.Phe640del
NM_001204798.2:c.899_901del	NP_001191727.1:p.Phe300del
NM_172057.3:c.899_901del	NP_742054.1:p.Phe300del