Canonical Allele Identifier: CA2695208735
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952590_150952607dup , CM000669.2:g.150952590_150952607dup GRCh38
NC_000007.13:g.150649678_150649695dup , CM000669.1:g.150649678_150649695dup GRCh37
NC_000007.12:g.150280611_150280628dup NCBI36
NG_008916.1:g.30329_30346dup , LRG_288:g.30329_30346dup

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.682_699dup
ENST00000684116.1:n.277_294dup
ENST00000684241.1:n.2217_2234dup
ENST00000262186.10:c.1384_1401dup MANE Select ENSP00000262186.5:p.Ile467_Leu468insMetPh...
ENST00000330883.9:c.364_381dup ENSP00000328531.4:p.Ile127_Leu128insMetPh...
ENST00000262186.9:c.1384_1401dup ENSP00000262186.5:p.Ile467_Leu468insMetPh...
ENST00000330883.8:c.364_381dup ENSP00000328531.4:p.Ile127_Leu128insMetPh...
ENST00000430723.4:c.1036_1053dup ENSP00000387657.4:p.Ile351_Leu352insMetPh...
ENST00000461280.1:n.671_688dup
ENST00000473610.5:n.689_706dup
ENST00000532957.5:n.1607_1624dup
NM_000238.3:c.1384_1401dup , LRG_288t1:c.1384_1401dup NP_000229.1:p.Ile467_Leu468insMetPheIleVa...
NM_001204798.1:c.364_381dup NP_001191727.1:p.Ile127_Leu128insMetPheIl...
NM_172056.2:c.1384_1401dup , LRG_288t2:c.1384_1401dup NP_742053.1:p.Ile467_Leu468insMetPheIleVa...
NM_172057.2:c.364_381dup , LRG_288t3:c.364_381dup NP_742054.1:p.Ile127_Leu128insMetPheIleVa...
XM_011516185.1:c.1084_1101dup XP_011514487.1:p.Ile367_Leu368insMetPheIl...
XM_011516186.1:c.1384_1401dup XP_011514488.1:p.Ile467_Leu468insMetPheIl...
XM_011516185.2:c.1084_1101dup XP_011514487.1:p.Ile367_Leu368insMetPheIl...
XM_011516186.3:c.1384_1401dup XP_011514488.1:p.Ile467_Leu468insMetPheIl...
XM_017012195.1:c.1234_1251dup XP_016867684.1:p.Ile417_Leu418insMetPheIl...
XM_017012196.1:c.1207_1224dup XP_016867685.1:p.Ile408_Leu409insMetPheIl...
NM_000238.4:c.1384_1401dup MANE Select NP_000229.1:p.Ile467_Leu468insMetPheIleVa...
NM_001204798.2:c.364_381dup NP_001191727.1:p.Ile127_Leu128insMetPheIl...
NM_172057.3:c.364_381dup NP_742054.1:p.Ile127_Leu128insMetPheIleVa...