Canonical Allele Identifier: CA053487
Community Standard Title: NM_000548.5(TSC2):c.5011G>A (p.Val1671Met)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2087884G>A , CM000678.2:g.2087884G>A GRCh38
NC_000016.9:g.2137885G>A , CM000678.1:g.2137885G>A GRCh37
NC_000016.8:g.2077886G>A NCBI36
NG_005895.1:g.43579G>A , LRG_487:g.43579G>A
NG_008617.1:g.55337C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5011G>A MANE Select NP_000539.2:p.Val1671Met
ENST00000219476.9:c.5011G>A MANE Select ENSP00000219476.3:p.Val1671Met
NM_000548.3:c.5011G>A , LRG_487t1:c.5011G>A NP_000539.2:p.Val1671Met
NM_000548.4:c.5011G>A NP_000539.2:p.Val1671Met
NM_001077183.1:c.4810G>A NP_001070651.1:p.Val1604Met
NM_001077183.2:c.4810G>A NP_001070651.1:p.Val1604Met
NM_001077183.3:c.4810G>A NP_001070651.1:p.Val1604Met
NM_001114382.1:c.4942G>A NP_001107854.1:p.Val1648Met
NM_001114382.2:c.4942G>A NP_001107854.1:p.Val1648Met
NM_001114382.3:c.4942G>A NP_001107854.1:p.Val1648Met
NM_001318827.1:c.4702G>A NP_001305756.1:p.Val1568Met
NM_001318827.2:c.4702G>A NP_001305756.1:p.Val1568Met
NM_001318829.1:c.4666G>A NP_001305758.1:p.Val1556Met
NM_001318829.2:c.4666G>A NP_001305758.1:p.Val1556Met
NM_001318831.1:c.4279G>A NP_001305760.1:p.Val1427Met
NM_001318831.2:c.4279G>A NP_001305760.1:p.Val1427Met
NM_001318832.1:c.4843G>A NP_001305761.1:p.Val1615Met
NM_001318832.2:c.4843G>A NP_001305761.1:p.Val1615Met
NM_001363528.1:c.4813G>A NP_001350457.1:p.Val1605Met
NM_001363528.2:c.4813G>A NP_001350457.1:p.Val1605Met
NM_001370404.1:c.4879G>A NP_001357333.1:p.Val1627Met
NM_001370405.1:c.4882G>A NP_001357334.1:p.Val1628Met
NM_021055.2:c.4882G>A NP_066399.2:p.Val1628Met
NM_021055.3:c.4882G>A NP_066399.2:p.Val1628Met
ENST00000219476.7:c.5011G>A ENSP00000219476.3:p.Val1671Met
ENST00000350773.8:c.4942G>A ENSP00000344383.4:p.Val1648Met
ENST00000350773.9:c.4942G>A ENSP00000344383.4:p.Val1648Met
ENST00000382538.10:c.4666G>A ENSP00000371978.6:p.Val1556Met
ENST00000401874.6:c.4810G>A ENSP00000384468.2:p.Val1604Met
ENST00000401874.7:c.4810G>A ENSP00000384468.2:p.Val1604Met
ENST00000439117.6:c.*4178G>A ENSP00000406980.2:n.*4178G>A
ENST00000439673.6:c.4702G>A ENSP00000399232.2:p.Val1568Met
ENST00000497886.5:n.2734G>A
ENST00000568454.5:c.4843G>A ENSP00000454487.1:p.Val1615Met
ENST00000568454.6:c.4843G>A ENSP00000454487.1:p.Val1615Met
ENST00000568566.6:c.*3360G>A ENSP00000455997.2:n.*3360G>A
ENST00000569110.1:c.1193G>A
ENST00000569110.2:c.1234G>A
ENST00000569930.1:n.2126G>A
ENST00000569930.2:n.2893G>A
ENST00000642206.2:c.4858G>A ENSP00000495146.2:p.Val1620Met
ENST00000642365.1:c.3665G>A
ENST00000642365.2:c.5008G>A ENSP00000495459.2:p.Val1670Met
ENST00000642561.1:c.4882G>A ENSP00000495099.1:p.Val1628Met
ENST00000642791.1:n.608G>A
ENST00000642797.1:c.4813G>A ENSP00000493846.1:p.Val1605Met
ENST00000642936.1:c.4879G>A ENSP00000494514.1:p.Val1627Met
ENST00000643088.1:c.4804G>A ENSP00000494747.1:p.Val1602Met
ENST00000643177.1:n.1025G>A
ENST00000643426.1:n.2659G>A
ENST00000643946.1:c.4936G>A ENSP00000495927.1:p.Val1646Met
ENST00000644043.1:c.4882G>A ENSP00000496262.1:p.Val1628Met
ENST00000644278.1:n.493G>A
ENST00000644329.1:c.4810G>A ENSP00000496611.1:p.Val1604Met
ENST00000644335.1:c.4807G>A ENSP00000496317.1:p.Val1603Met
ENST00000644399.1:c.4932G>A
ENST00000644417.2:c.*5524G>A ENSP00000493912.2:n.*5524G>A
ENST00000645024.1:n.3095G>A
ENST00000646388.1:c.5005G>A ENSP00000495921.1:p.Val1669Met
ENST00000646464.2:c.*7760G>A ENSP00000496610.2:n.*7760G>A
ENST00000646634.1:n.3826G>A
ENST00000646674.1:n.2263G>A
ENST00000647042.1:n.2234G>A
ENST00000647180.1:n.2124G>A
XM_005255529.3:c.4882G>A XP_005255586.2:p.Val1628Met
XM_005255531.3:c.4813G>A XP_005255588.2:p.Val1605Met
XM_005255531.4:c.4813G>A XP_005255588.2:p.Val1605Met
XM_011522636.1:c.5065G>A XP_011520938.1:p.Val1689Met
XM_011522636.2:c.5065G>A XP_011520938.1:p.Val1689Met
XM_011522637.1:c.5062G>A XP_011520939.1:p.Val1688Met
XM_011522637.2:c.5062G>A XP_011520939.1:p.Val1688Met
XM_011522638.1:c.4954G>A XP_011520940.1:p.Val1652Met
XM_011522638.2:c.5227G>A XP_011520940.2:p.Val1743Met
XM_011522639.1:c.4936G>A XP_011520941.1:p.Val1646Met
XM_011522639.2:c.4936G>A XP_011520941.1:p.Val1646Met
XM_011522640.1:c.4933G>A XP_011520942.1:p.Val1645Met
XM_011522640.2:c.4933G>A XP_011520942.1:p.Val1645Met
XM_011522641.1:c.4702G>A XP_011520943.1:p.Val1568Met
XM_017023615.1:c.5008G>A XP_016879104.1:p.Val1670Met
XM_017023616.1:c.4879G>A XP_016879105.1:p.Val1627Met
XM_017023617.1:c.4975G>A XP_016879106.1:p.Val1659Met
XM_017023618.1:c.3721G>A XP_016879107.1:p.Val1241Met
XM_024450413.1:c.4810G>A XP_024306181.1:p.Val1604Met