Canonical Allele Identifier: CA006299

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974803G>C , CM000669.2:g.150974803G>C	GRCh38
NC_000007.13:g.150671891G>C , CM000669.1:g.150671891G>C	GRCh37
NC_000007.12:g.150302824G>C	NCBI36
NG_008916.1:g.8124C>G , LRG_288:g.8124C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.215C>G MANE Select	NP_000229.1:p.Pro72Arg
ENST00000262186.10:c.215C>G MANE Select	ENSP00000262186.5:p.Pro72Arg
NM_000238.3:c.215C>G , LRG_288t1:c.215C>G	NP_000229.1:p.Pro72Arg
NM_172056.2:c.215C>G , LRG_288t2:c.215C>G	NP_742053.1:p.Pro72Arg
ENST00000262186.9:c.215C>G	ENSP00000262186.5:p.Pro72Arg
ENST00000430723.4:c.38C>G	ENSP00000387657.4:p.Pro13Arg
ENST00000532957.5:n.438C>G
XM_011516186.1:c.215C>G	XP_011514488.1:p.Pro72Arg
XM_011516186.3:c.215C>G	XP_011514488.1:p.Pro72Arg
XM_017012196.1:c.38C>G	XP_016867685.1:p.Pro13Arg