Canonical Allele Identifier: CA2573141857

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1509501
• ClinVar RCV Id: RCV002017950
• dbSNP Id: rs2116941053

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948989_150948990insAGGCCCTTGCATACA , CM000669.2:g.150948989_150948990insAGGCCCTTGCATACA	GRCh38
NC_000007.13:g.150646077_150646078insAGGCCCTTGCATACA , CM000669.1:g.150646077_150646078insAGGCCCTTGCATACA	GRCh37
NC_000007.12:g.150277010_150277011insAGGCCCTTGCATACA	NCBI36
NG_008916.1:g.33937_33938insTGTATGCAAGGGCCT , LRG_288:g.33937_33938insTGTATGCAAGGGCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3291_3292insTGTATGCAAGGGCCT
ENST00000262186.10:c.2458_2459insTGTATGCAAGGGCCT MANE Select	ENSP00000262186.5:p.Gly820delinsValTyrAla...
ENST00000330883.9:c.1438_1439insTGTATGCAAGGGCCT	ENSP00000328531.4:p.Gly480delinsValTyrAla...
ENST00000262186.9:c.2458_2459insTGTATGCAAGGGCCT	ENSP00000262186.5:p.Gly820delinsValTyrAla...
ENST00000330883.8:c.1438_1439insTGTATGCAAGGGCCT	ENSP00000328531.4:p.Gly480delinsValTyrAla...
NM_000238.3:c.2458_2459insTGTATGCAAGGGCCT , LRG_288t1:c.2458_2459insTGTATGCAAGGGCCT	NP_000229.1:p.Gly820delinsValTyrAlaArgAla...
NM_172057.2:c.1438_1439insTGTATGCAAGGGCCT , LRG_288t3:c.1438_1439insTGTATGCAAGGGCCT	NP_742054.1:p.Gly480delinsValTyrAlaArgAla...
XM_011516185.1:c.2158_2159insTGTATGCAAGGGCCT	XP_011514487.1:p.Gly720delinsValTyrAlaArg...
XM_011516186.1:c.2458_2459insTGTATGCAAGGGCCT	XP_011514488.1:p.Gly820delinsValTyrAlaArg...
XM_011516185.2:c.2158_2159insTGTATGCAAGGGCCT	XP_011514487.1:p.Gly720delinsValTyrAlaArg...
XM_011516186.3:c.2458_2459insTGTATGCAAGGGCCT	XP_011514488.1:p.Gly820delinsValTyrAlaArg...
XM_017012195.1:c.2308_2309insTGTATGCAAGGGCCT	XP_016867684.1:p.Gly770delinsValTyrAlaArg...
XM_017012196.1:c.2281_2282insTGTATGCAAGGGCCT	XP_016867685.1:p.Gly761delinsValTyrAlaArg...
NM_000238.4:c.2458_2459insTGTATGCAAGGGCCT MANE Select	NP_000229.1:p.Gly820delinsValTyrAlaArgAla...
NM_172057.3:c.1438_1439insTGTATGCAAGGGCCT	NP_742054.1:p.Gly480delinsValTyrAlaArgAla...