Canonical Allele Identifier: CA369861694

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654513T>C (hg19) ; chr7:g.150957425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957425T>C , CM000669.2:g.150957425T>C	GRCh38
NC_000007.13:g.150654513T>C , CM000669.1:g.150654513T>C	GRCh37
NC_000007.12:g.150285446T>C	NCBI36
NG_008916.1:g.25502A>G , LRG_288:g.25502A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1827A>G
ENST00000262186.10:c.994A>G MANE Select	ENSP00000262186.5:p.Lys332Glu
ENST00000262186.9:c.994A>G	ENSP00000262186.5:p.Lys332Glu
ENST00000430723.4:c.646A>G	ENSP00000387657.4:p.Lys216Glu
ENST00000532957.5:n.1217A>G
NM_000238.3:c.994A>G , LRG_288t1:c.994A>G	NP_000229.1:p.Lys332Glu
NM_172056.2:c.994A>G , LRG_288t2:c.994A>G	NP_742053.1:p.Lys332Glu
XM_011516185.1:c.694A>G	XP_011514487.1:p.Lys232Glu
XM_011516186.1:c.994A>G	XP_011514488.1:p.Lys332Glu
XM_011516185.2:c.694A>G	XP_011514487.1:p.Lys232Glu
XM_011516186.3:c.994A>G	XP_011514488.1:p.Lys332Glu
XM_017012195.1:c.844A>G	XP_016867684.1:p.Lys282Glu
XM_017012196.1:c.817A>G	XP_016867685.1:p.Lys273Glu
NM_000238.4:c.994A>G MANE Select	NP_000229.1:p.Lys332Glu