Canonical Allele Identifier: CA578701725
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948428_150948430dup , CM000669.2:g.150948428_150948430dup GRCh38
NC_000007.13:g.150645516_150645518dup , CM000669.1:g.150645516_150645518dup GRCh37
NC_000007.12:g.150276449_150276451dup NCBI36
NG_008916.1:g.34498_34500dup , LRG_288:g.34498_34500dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3525+15_3525+17dup
ENST00000262186.10:c.2692+15_2692+17dup MANE Select ENSP00000262186.5:n.2692+15_2692+17dup
ENST00000330883.9:c.1672+15_1672+17dup ENSP00000328531.4:n.1672+15_1672+17dup
ENST00000262186.9:c.2692+15_2692+17dup ENSP00000262186.5:n.2692+15_2692+17dup
ENST00000330883.8:c.1672+15_1672+17dup ENSP00000328531.4:n.1672+15_1672+17dup
NM_000238.3:c.2692+15_2692+17dup , LRG_288t1:c.2692+15_2692+17dup NP_000229.1:n.2692+15_2692+17dup
NM_172057.2:c.1672+15_1672+17dup , LRG_288t3:c.1672+15_1672+17dup NP_742054.1:n.1672+15_1672+17dup
XM_011516185.1:c.2392+15_2392+17dup XP_011514487.1:n.2392+15_2392+17dup
XM_011516186.1:c.2692+15_2692+17dup XP_011514488.1:n.2692+15_2692+17dup
XM_011516185.2:c.2392+15_2392+17dup XP_011514487.1:n.2392+15_2392+17dup
XM_011516186.3:c.2692+15_2692+17dup XP_011514488.1:n.2692+15_2692+17dup
XM_017012195.1:c.2542+15_2542+17dup XP_016867684.1:n.2542+15_2542+17dup
XM_017012196.1:c.2515+15_2515+17dup XP_016867685.1:n.2515+15_2515+17dup
NM_000238.4:c.2692+15_2692+17dup MANE Select NP_000229.1:n.2692+15_2692+17dup
NM_172057.3:c.1672+15_1672+17dup NP_742054.1:n.1672+15_1672+17dup