Canonical Allele Identifier: CA2778425124
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947937_150947938insAGGAGGGGGCAAG , CM000669.2:g.150947937_150947938insAGGAGGGGGCAAG GRCh38
NC_000007.13:g.150645025_150645026insAGGAGGGGGCAAG , CM000669.1:g.150645025_150645026insAGGAGGGGGCAAG GRCh37
NC_000007.12:g.150275958_150275959insAGGAGGGGGCAAG NCBI36
NG_008916.1:g.34991_34992insTGCCCCCTCCTCT , LRG_288:g.34991_34992insTGCCCCCTCCTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3526-58_3526-57insTGCCCCCTCCTCT
ENST00000262186.10:c.2693-58_2693-57insTGCCCCCTCCTCT MANE Select ENSP00000262186.5:n.2693-58_2693-57insTGCCCCCTCCTCT
ENST00000330883.9:c.1673-58_1673-57insTGCCCCCTCCTCT ENSP00000328531.4:n.1673-58_1673-57insTGCCCCCTCCTCT
ENST00000262186.9:c.2693-58_2693-57insTGCCCCCTCCTCT ENSP00000262186.5:n.2693-58_2693-57insTGCCCCCTCCTCT
ENST00000330883.8:c.1673-58_1673-57insTGCCCCCTCCTCT ENSP00000328531.4:n.1673-58_1673-57insTGCCCCCTCCTCT
NM_000238.3:c.2693-58_2693-57insTGCCCCCTCCTCT , LRG_288t1:c.2693-58_2693-57insTGCCCCCTCCTCT NP_000229.1:n.2693-58_2693-57insTGCCCCCTCCTCT
NM_172057.2:c.1673-58_1673-57insTGCCCCCTCCTCT , LRG_288t3:c.1673-58_1673-57insTGCCCCCTCCTCT NP_742054.1:n.1673-58_1673-57insTGCCCCCTCCTCT
XM_011516185.1:c.2393-58_2393-57insTGCCCCCTCCTCT XP_011514487.1:n.2393-58_2393-57insTGCCCCCTCCTCT
XM_011516186.1:c.2693-245_2693-244insTGCCCCCTCCTCT XP_011514488.1:n.2693-245_2693-244insTGCCCCCTCCTCT
XM_011516185.2:c.2393-58_2393-57insTGCCCCCTCCTCT XP_011514487.1:n.2393-58_2393-57insTGCCCCCTCCTCT
XM_011516186.3:c.2693-245_2693-244insTGCCCCCTCCTCT XP_011514488.1:n.2693-245_2693-244insTGCCCCCTCCTCT
XM_017012195.1:c.2543-58_2543-57insTGCCCCCTCCTCT XP_016867684.1:n.2543-58_2543-57insTGCCCCCTCCTCT
XM_017012196.1:c.2516-58_2516-57insTGCCCCCTCCTCT XP_016867685.1:n.2516-58_2516-57insTGCCCCCTCCTCT
NM_000238.4:c.2693-58_2693-57insTGCCCCCTCCTCT MANE Select NP_000229.1:n.2693-58_2693-57insTGCCCCCTCCTCT
NM_172057.3:c.1673-58_1673-57insTGCCCCCTCCTCT NP_742054.1:n.1673-58_1673-57insTGCCCCCTCCTCT