Canonical Allele Identifier: CA169072570

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947778C>T , CM000669.2:g.150947778C>T	GRCh38
NC_000007.13:g.150644866C>T , CM000669.1:g.150644866C>T	GRCh37
NC_000007.12:g.150275799C>T	NCBI36
NG_008916.1:g.35149G>A , LRG_288:g.35149G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2793G>A MANE Select	NP_000229.1:p.Pro931=
ENST00000262186.10:c.2793G>A MANE Select	ENSP00000262186.5:p.Pro931=
NM_000238.3:c.2793G>A , LRG_288t1:c.2793G>A	NP_000229.1:p.Pro931=
NM_172057.2:c.1773G>A , LRG_288t3:c.1773G>A	NP_742054.1:p.Pro591=
NM_172057.3:c.1773G>A	NP_742054.1:p.Pro591=
ENST00000262186.9:c.2793G>A	ENSP00000262186.5:p.Pro931=
ENST00000330883.8:c.1773G>A	ENSP00000328531.4:p.Pro591=
ENST00000330883.9:c.1773G>A	ENSP00000328531.4:p.Pro591=
ENST00000684241.1:n.3626G>A
XM_011516185.1:c.2493G>A	XP_011514487.1:p.Pro831=
XM_011516185.2:c.2493G>A	XP_011514487.1:p.Pro831=
XM_011516186.1:c.2693-87G>A	XP_011514488.1:n.2693-87G>A
XM_011516186.3:c.2693-87G>A	XP_011514488.1:n.2693-87G>A
XM_017012195.1:c.2643G>A	XP_016867684.1:p.Pro881=
XM_017012196.1:c.2616G>A	XP_016867685.1:p.Pro872=