Canonical Allele Identifier: CA1752430520
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947865T= , CM000669.2:g.150947865T= GRCh38
NC_000007.13:g.150644953T= , CM000669.1:g.150644953T= GRCh37
NC_000007.12:g.150275886T= NCBI36
NG_008916.1:g.35062A= , LRG_288:g.35062A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3539A=
ENST00000262186.10:c.2706A= MANE Select ENSP00000262186.5:p.Pro902=
ENST00000330883.9:c.1686A= ENSP00000328531.4:p.Pro562=
ENST00000262186.9:c.2706A= ENSP00000262186.5:p.Pro902=
ENST00000330883.8:c.1686A= ENSP00000328531.4:p.Pro562=
NM_000238.3:c.2706A= , LRG_288t1:c.2706A= NP_000229.1:p.Pro902=
NM_172057.2:c.1686A= , LRG_288t3:c.1686A= NP_742054.1:p.Pro562=
XM_011516185.1:c.2406A= XP_011514487.1:p.Pro802=
XM_011516186.1:c.2693-174A= XP_011514488.1:n.2693-174A=
XM_011516185.2:c.2406A= XP_011514487.1:p.Pro802=
XM_011516186.3:c.2693-174A= XP_011514488.1:n.2693-174A=
XM_017012195.1:c.2556A= XP_016867684.1:p.Pro852=
XM_017012196.1:c.2529A= XP_016867685.1:p.Pro843=
NM_000238.4:c.2706A= MANE Select NP_000229.1:p.Pro902=
NM_172057.3:c.1686A= NP_742054.1:p.Pro562=