Canonical Allele Identifier: CA916080384
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947874_150947879dup , CM000669.2:g.150947874_150947879dup GRCh38
NC_000007.13:g.150644962_150644967dup , CM000669.1:g.150644962_150644967dup GRCh37
NC_000007.12:g.150275895_150275900dup NCBI36
NG_008916.1:g.35050_35055dup , LRG_288:g.35050_35055dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3527_3532dup
ENST00000262186.10:c.2694_2699dup
ENST00000330883.9:c.1674_1679dup
ENST00000262186.9:c.2694_2699dup
ENST00000330883.8:c.1674_1679dup
NM_000238.3:c.2694_2699dup , LRG_288t1:c.2694_2699dup
NM_172057.2:c.1674_1679dup , LRG_288t3:c.1674_1679dup
XM_011516185.1:c.2394_2399dup
XM_011516186.1:c.2693-186_2693-181dup XP_011514488.1:n.2693-186_2693-181dup
XM_011516185.2:c.2394_2399dup
XM_011516186.3:c.2693-186_2693-181dup XP_011514488.1:n.2693-186_2693-181dup
XM_017012195.1:c.2544_2549dup
XM_017012196.1:c.2517_2522dup
NM_000238.4:c.2694_2699dup
NM_172057.3:c.1674_1679dup