Canonical Allele Identifier: CA2778426216
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959762dup , CM000669.2:g.150959762dup GRCh38
NC_000007.13:g.150656850dup , CM000669.1:g.150656850dup GRCh37
NC_000007.12:g.150287783dup NCBI36
NG_008916.1:g.23169dup , LRG_288:g.23169dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1119dup
ENST00000262186.10:c.308-22dup MANE Select ENSP00000262186.5:n.308-22dup
ENST00000262186.9:c.308-22dup ENSP00000262186.5:n.308-22dup
ENST00000430723.4:c.131-22dup ENSP00000387657.4:n.131-22dup
ENST00000532957.5:n.531-22dup
NM_000238.3:c.308-22dup , LRG_288t1:c.308-22dup NP_000229.1:n.308-22dup
NM_172056.2:c.308-22dup , LRG_288t2:c.308-22dup NP_742053.1:n.308-22dup
XM_011516185.1:c.8-22dup XP_011514487.1:n.8-22dup
XM_011516186.1:c.308-22dup XP_011514488.1:n.308-22dup
XM_011516185.2:c.8-22dup XP_011514487.1:n.8-22dup
XM_011516186.3:c.308-22dup XP_011514488.1:n.308-22dup
XM_017012195.1:c.158-22dup XP_016867684.1:n.158-22dup
XM_017012196.1:c.131-22dup XP_016867685.1:n.131-22dup
NM_000238.4:c.308-22dup MANE Select NP_000229.1:n.308-22dup