Canonical Allele Identifier: CA2695208671
Gene: KCNH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974870del , CM000669.2:g.150974870del GRCh38
NC_000007.13:g.150671958del , CM000669.1:g.150671958del GRCh37
NC_000007.12:g.150302891del NCBI36
NG_008916.1:g.8057del , LRG_288:g.8057del

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.148del MANE Select ENSP00000262186.5:p.Glu50SerfsTer10
ENST00000262186.9:c.148del ENSP00000262186.5:p.Glu50SerfsTer10
ENST00000430723.4:c.-30del ENSP00000387657.4:n.-30del
ENST00000532957.5:n.371del
NM_000238.3:c.148del , LRG_288t1:c.148del NP_000229.1:p.Glu50SerfsTer10
NM_172056.2:c.148del , LRG_288t2:c.148del NP_742053.1:p.Glu50SerfsTer10
XM_011516186.1:c.148del XP_011514488.1:p.Glu50SerfsTer10
XM_011516186.3:c.148del XP_011514488.1:p.Glu50SerfsTer10
XM_017012196.1:c.-30del XP_016867685.1:n.-30del
NM_000238.4:c.148del MANE Select NP_000229.1:p.Glu50SerfsTer10
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