Canonical Allele Identifier: CA394307249
Community Standard Title: NM_000548.5(TSC2):c.4697A>G (p.His1566Arg)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086227A>G , CM000678.2:g.2086227A>G GRCh38
NC_000016.9:g.2136228A>G , CM000678.1:g.2136228A>G GRCh37
NC_000016.8:g.2076229A>G NCBI36
NG_005895.1:g.41922A>G , LRG_487:g.41922A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4697A>G MANE Select NP_000539.2:p.His1566Arg
ENST00000219476.9:c.4697A>G MANE Select ENSP00000219476.3:p.His1566Arg
NM_000548.3:c.4697A>G , LRG_487t1:c.4697A>G NP_000539.2:p.His1566Arg
NM_000548.4:c.4697A>G NP_000539.2:p.His1566Arg
NM_001077183.1:c.4496A>G NP_001070651.1:p.His1499Arg
NM_001077183.2:c.4496A>G NP_001070651.1:p.His1499Arg
NM_001077183.3:c.4496A>G NP_001070651.1:p.His1499Arg
NM_001114382.1:c.4628A>G NP_001107854.1:p.His1543Arg
NM_001114382.2:c.4628A>G NP_001107854.1:p.His1543Arg
NM_001114382.3:c.4628A>G NP_001107854.1:p.His1543Arg
NM_001318827.1:c.4388A>G NP_001305756.1:p.His1463Arg
NM_001318827.2:c.4388A>G NP_001305756.1:p.His1463Arg
NM_001318829.1:c.4352A>G NP_001305758.1:p.His1451Arg
NM_001318829.2:c.4352A>G NP_001305758.1:p.His1451Arg
NM_001318831.1:c.3965A>G NP_001305760.1:p.His1322Arg
NM_001318831.2:c.3965A>G NP_001305760.1:p.His1322Arg
NM_001318832.1:c.4529A>G NP_001305761.1:p.His1510Arg
NM_001318832.2:c.4529A>G NP_001305761.1:p.His1510Arg
NM_001363528.1:c.4499A>G NP_001350457.1:p.His1500Arg
NM_001363528.2:c.4499A>G NP_001350457.1:p.His1500Arg
NM_001370404.1:c.4565A>G NP_001357333.1:p.His1522Arg
NM_001370405.1:c.4568A>G NP_001357334.1:p.His1523Arg
NM_021055.2:c.4568A>G NP_066399.2:p.His1523Arg
NM_021055.3:c.4568A>G NP_066399.2:p.His1523Arg
ENST00000219476.7:c.4697A>G ENSP00000219476.3:p.His1566Arg
ENST00000350773.8:c.4628A>G ENSP00000344383.4:p.His1543Arg
ENST00000350773.9:c.4628A>G ENSP00000344383.4:p.His1543Arg
ENST00000382538.10:c.4352A>G ENSP00000371978.6:p.His1451Arg
ENST00000401874.6:c.4496A>G ENSP00000384468.2:p.His1499Arg
ENST00000401874.7:c.4496A>G ENSP00000384468.2:p.His1499Arg
ENST00000439117.6:c.*3864A>G ENSP00000406980.2:n.*3864A>G
ENST00000439673.6:c.4388A>G ENSP00000399232.2:p.His1463Arg
ENST00000497886.5:n.2455A>G
ENST00000568454.5:c.4529A>G ENSP00000454487.1:p.His1510Arg
ENST00000568454.6:c.4529A>G ENSP00000454487.1:p.His1510Arg
ENST00000568566.6:c.*3046A>G ENSP00000455997.2:n.*3046A>G
ENST00000569110.1:c.879A>G
ENST00000569110.2:c.920A>G
ENST00000569930.1:n.1812A>G
ENST00000569930.2:n.2579A>G
ENST00000642206.2:c.4544A>G ENSP00000495146.2:p.His1515Arg
ENST00000642365.1:c.3351A>G
ENST00000642365.2:c.4694A>G ENSP00000495459.2:p.His1565Arg
ENST00000642561.1:c.4568A>G ENSP00000495099.1:p.His1523Arg
ENST00000642728.1:n.879A>G
ENST00000642791.1:n.294A>G
ENST00000642797.1:c.4499A>G ENSP00000493846.1:p.His1500Arg
ENST00000642936.1:c.4565A>G ENSP00000494514.1:p.His1522Arg
ENST00000643088.1:c.4490A>G ENSP00000494747.1:p.His1497Arg
ENST00000643177.1:n.711A>G
ENST00000643426.1:n.2345A>G
ENST00000643946.1:c.4622A>G ENSP00000495927.1:p.His1541Arg
ENST00000644043.1:c.4568A>G ENSP00000496262.1:p.His1523Arg
ENST00000644278.1:n.179A>G
ENST00000644329.1:c.4496A>G ENSP00000496611.1:p.His1499Arg
ENST00000644335.1:c.4493A>G ENSP00000496317.1:p.His1498Arg
ENST00000644399.1:c.4618A>G
ENST00000644417.2:c.*5210A>G ENSP00000493912.2:n.*5210A>G
ENST00000645024.1:n.2781A>G
ENST00000646388.1:c.4691A>G ENSP00000495921.1:p.His1564Arg
ENST00000646464.2:c.*7446A>G ENSP00000496610.2:n.*7446A>G
ENST00000646634.1:n.3512A>G
ENST00000646674.1:n.1949A>G
ENST00000647042.1:n.1920A>G
ENST00000647180.1:n.1810A>G
XM_005255529.3:c.4568A>G XP_005255586.2:p.His1523Arg
XM_005255531.3:c.4499A>G XP_005255588.2:p.His1500Arg
XM_005255531.4:c.4499A>G XP_005255588.2:p.His1500Arg
XM_011522636.1:c.4751A>G XP_011520938.1:p.His1584Arg
XM_011522636.2:c.4751A>G XP_011520938.1:p.His1584Arg
XM_011522637.1:c.4748A>G XP_011520939.1:p.His1583Arg
XM_011522637.2:c.4748A>G XP_011520939.1:p.His1583Arg
XM_011522638.1:c.4640A>G XP_011520940.1:p.His1547Arg
XM_011522638.2:c.4913A>G XP_011520940.2:p.His1638Arg
XM_011522639.1:c.4622A>G XP_011520941.1:p.His1541Arg
XM_011522639.2:c.4622A>G XP_011520941.1:p.His1541Arg
XM_011522640.1:c.4619A>G XP_011520942.1:p.His1540Arg
XM_011522640.2:c.4619A>G XP_011520942.1:p.His1540Arg
XM_011522641.1:c.4388A>G XP_011520943.1:p.His1463Arg
XM_017023615.1:c.4694A>G XP_016879104.1:p.His1565Arg
XM_017023616.1:c.4565A>G XP_016879105.1:p.His1522Arg
XM_017023617.1:c.4661A>G XP_016879106.1:p.His1554Arg
XM_017023618.1:c.3407A>G XP_016879107.1:p.His1136Arg
XM_024450413.1:c.4496A>G XP_024306181.1:p.His1499Arg