Canonical Allele Identifier: CA005058

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67231
• ClinVar RCV Id: RCV000057942 ; RCV002513753
• dbSNP Id: rs199472922
• MyVariant Identifiers: chr7:g.150648796T>G (hg19) ; chr7:g.150951708T>G (hg38)
• PubMed: PMID:15242738 ; PMID:15840476 ; PMID:16432067 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951708T>G , CM000669.2:g.150951708T>G	GRCh38
NC_000007.13:g.150648796T>G , CM000669.1:g.150648796T>G	GRCh37
NC_000007.12:g.150279729T>G	NCBI36
NG_008916.1:g.31219A>C , LRG_288:g.31219A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.983A>C
ENST00000684241.1:n.2518A>C
ENST00000262186.10:c.1685A>C MANE Select	ENSP00000262186.5:p.His562Pro
ENST00000330883.9:c.665A>C	ENSP00000328531.4:p.His222Pro
ENST00000262186.9:c.1685A>C	ENSP00000262186.5:p.His562Pro
ENST00000330883.8:c.665A>C	ENSP00000328531.4:p.His222Pro
ENST00000430723.4:c.1337A>C	ENSP00000387657.4:p.His446Pro
ENST00000461280.1:n.972A>C
ENST00000473610.5:n.990A>C
ENST00000532957.5:n.1908A>C
NM_000238.3:c.1685A>C , LRG_288t1:c.1685A>C	NP_000229.1:p.His562Pro
NM_001204798.1:c.665A>C	NP_001191727.1:p.His222Pro
NM_172056.2:c.1685A>C , LRG_288t2:c.1685A>C	NP_742053.1:p.His562Pro
NM_172057.2:c.665A>C , LRG_288t3:c.665A>C	NP_742054.1:p.His222Pro
XM_011516185.1:c.1385A>C	XP_011514487.1:p.His462Pro
XM_011516186.1:c.1685A>C	XP_011514488.1:p.His562Pro
XM_011516185.2:c.1385A>C	XP_011514487.1:p.His462Pro
XM_011516186.3:c.1685A>C	XP_011514488.1:p.His562Pro
XM_017012195.1:c.1535A>C	XP_016867684.1:p.His512Pro
XM_017012196.1:c.1508A>C	XP_016867685.1:p.His503Pro
NM_000238.4:c.1685A>C MANE Select	NP_000229.1:p.His562Pro
NM_001204798.2:c.665A>C	NP_001191727.1:p.His222Pro
NM_172057.3:c.665A>C	NP_742054.1:p.His222Pro