Canonical Allele Identifier: CA369860082

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649797T>G (hg19) ; chr7:g.150952709T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952709T>G , CM000669.2:g.150952709T>G	GRCh38
NC_000007.13:g.150649797T>G , CM000669.1:g.150649797T>G	GRCh37
NC_000007.12:g.150280730T>G	NCBI36
NG_008916.1:g.30218A>C , LRG_288:g.30218A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.571A>C
ENST00000684116.1:n.166A>C
ENST00000684241.1:n.2106A>C
ENST00000262186.10:c.1273A>C MANE Select	ENSP00000262186.5:p.Thr425Pro
ENST00000330883.9:c.253A>C	ENSP00000328531.4:p.Thr85Pro
ENST00000262186.9:c.1273A>C	ENSP00000262186.5:p.Thr425Pro
ENST00000330883.8:c.253A>C	ENSP00000328531.4:p.Thr85Pro
ENST00000430723.4:c.925A>C	ENSP00000387657.4:p.Thr309Pro
ENST00000461280.1:n.560A>C
ENST00000473610.5:n.578A>C
ENST00000532957.5:n.1496A>C
NM_000238.3:c.1273A>C , LRG_288t1:c.1273A>C	NP_000229.1:p.Thr425Pro
NM_001204798.1:c.253A>C	NP_001191727.1:p.Thr85Pro
NM_172056.2:c.1273A>C , LRG_288t2:c.1273A>C	NP_742053.1:p.Thr425Pro
NM_172057.2:c.253A>C , LRG_288t3:c.253A>C	NP_742054.1:p.Thr85Pro
XM_011516185.1:c.973A>C	XP_011514487.1:p.Thr325Pro
XM_011516186.1:c.1273A>C	XP_011514488.1:p.Thr425Pro
XM_011516185.2:c.973A>C	XP_011514487.1:p.Thr325Pro
XM_011516186.3:c.1273A>C	XP_011514488.1:p.Thr425Pro
XM_017012195.1:c.1123A>C	XP_016867684.1:p.Thr375Pro
XM_017012196.1:c.1096A>C	XP_016867685.1:p.Thr366Pro
NM_000238.4:c.1273A>C MANE Select	NP_000229.1:p.Thr425Pro
NM_001204798.2:c.253A>C	NP_001191727.1:p.Thr85Pro
NM_172057.3:c.253A>C	NP_742054.1:p.Thr85Pro