Canonical Allele Identifier: CA918162328
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1554424497

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948062dup , CM000669.2:g.150948062dup GRCh38
NC_000007.13:g.150645150dup , CM000669.1:g.150645150dup GRCh37
NC_000007.12:g.150276083dup NCBI36
NG_008916.1:g.34865dup , LRG_288:g.34865dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3526-184dup
ENST00000262186.10:c.2693-184dup MANE Select ENSP00000262186.5:n.2693-184dup
ENST00000330883.9:c.1673-184dup ENSP00000328531.4:n.1673-184dup
ENST00000262186.9:c.2693-184dup ENSP00000262186.5:n.2693-184dup
ENST00000330883.8:c.1673-184dup ENSP00000328531.4:n.1673-184dup
NM_000238.3:c.2693-184dup , LRG_288t1:c.2693-184dup NP_000229.1:n.2693-184dup
NM_172057.2:c.1673-184dup , LRG_288t3:c.1673-184dup NP_742054.1:n.1673-184dup
XM_011516185.1:c.2393-184dup XP_011514487.1:n.2393-184dup
XM_011516186.1:c.2693-371dup XP_011514488.1:n.2693-371dup
XM_011516185.2:c.2393-184dup XP_011514487.1:n.2393-184dup
XM_011516186.3:c.2693-371dup XP_011514488.1:n.2693-371dup
XM_017012195.1:c.2543-184dup XP_016867684.1:n.2543-184dup
XM_017012196.1:c.2516-184dup XP_016867685.1:n.2516-184dup
NM_000238.4:c.2693-184dup MANE Select NP_000229.1:n.2693-184dup
NM_172057.3:c.1673-184dup NP_742054.1:n.1673-184dup