Canonical Allele Identifier: CA369856418

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950311C>G , CM000669.2:g.150950311C>G	GRCh38
NC_000007.13:g.150647399C>G , CM000669.1:g.150647399C>G	GRCh37
NC_000007.12:g.150278332C>G	NCBI36
NG_008916.1:g.32616G>C , LRG_288:g.32616G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2255G>C MANE Select	NP_000229.1:p.Arg752Pro
ENST00000262186.10:c.2255G>C MANE Select	ENSP00000262186.5:p.Arg752Pro
NM_000238.3:c.2255G>C , LRG_288t1:c.2255G>C	NP_000229.1:p.Arg752Pro
NM_001204798.1:c.1235G>C	NP_001191727.1:p.Arg412Pro
NM_001204798.2:c.1235G>C	NP_001191727.1:p.Arg412Pro
NM_172056.2:c.2255G>C , LRG_288t2:c.2255G>C	NP_742053.1:p.Arg752Pro
NM_172057.2:c.1235G>C , LRG_288t3:c.1235G>C	NP_742054.1:p.Arg412Pro
NM_172057.3:c.1235G>C	NP_742054.1:p.Arg412Pro
ENST00000262186.9:c.2255G>C	ENSP00000262186.5:p.Arg752Pro
ENST00000330883.8:c.1235G>C	ENSP00000328531.4:p.Arg412Pro
ENST00000330883.9:c.1235G>C	ENSP00000328531.4:p.Arg412Pro
ENST00000430723.4:c.1907G>C	ENSP00000387657.4:p.Arg636Pro
ENST00000461280.1:n.1542G>C
ENST00000461280.2:n.1553G>C
ENST00000473610.5:n.1887G>C
ENST00000532957.5:n.2478G>C
ENST00000684241.1:n.3088G>C
XM_011516185.1:c.1955G>C	XP_011514487.1:p.Arg652Pro
XM_011516185.2:c.1955G>C	XP_011514487.1:p.Arg652Pro
XM_011516186.1:c.2255G>C	XP_011514488.1:p.Arg752Pro
XM_011516186.3:c.2255G>C	XP_011514488.1:p.Arg752Pro
XM_017012195.1:c.2105G>C	XP_016867684.1:p.Arg702Pro
XM_017012196.1:c.2078G>C	XP_016867685.1:p.Arg693Pro