Canonical Allele Identifier: CA394311988
Community Standard Title: NM_000548.5(TSC2):c.5080C>G (p.Leu1694Val)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088059C>G , CM000678.2:g.2088059C>G GRCh38
NC_000016.9:g.2138060C>G , CM000678.1:g.2138060C>G GRCh37
NC_000016.8:g.2078061C>G NCBI36
NG_005895.1:g.43754C>G , LRG_487:g.43754C>G
NG_008617.1:g.55162G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5080C>G MANE Select NP_000539.2:p.Leu1694Val
ENST00000219476.9:c.5080C>G MANE Select ENSP00000219476.3:p.Leu1694Val
NM_000548.3:c.5080C>G , LRG_487t1:c.5080C>G NP_000539.2:p.Leu1694Val
NM_000548.4:c.5080C>G NP_000539.2:p.Leu1694Val
NM_001077183.1:c.4879C>G NP_001070651.1:p.Leu1627Val
NM_001077183.2:c.4879C>G NP_001070651.1:p.Leu1627Val
NM_001077183.3:c.4879C>G NP_001070651.1:p.Leu1627Val
NM_001114382.1:c.5011C>G NP_001107854.1:p.Leu1671Val
NM_001114382.2:c.5011C>G NP_001107854.1:p.Leu1671Val
NM_001114382.3:c.5011C>G NP_001107854.1:p.Leu1671Val
NM_001318827.1:c.4771C>G NP_001305756.1:p.Leu1591Val
NM_001318827.2:c.4771C>G NP_001305756.1:p.Leu1591Val
NM_001318829.1:c.4735C>G NP_001305758.1:p.Leu1579Val
NM_001318829.2:c.4735C>G NP_001305758.1:p.Leu1579Val
NM_001318831.1:c.4348C>G NP_001305760.1:p.Leu1450Val
NM_001318831.2:c.4348C>G NP_001305760.1:p.Leu1450Val
NM_001318832.1:c.4912C>G NP_001305761.1:p.Leu1638Val
NM_001318832.2:c.4912C>G NP_001305761.1:p.Leu1638Val
NM_001363528.1:c.4882C>G NP_001350457.1:p.Leu1628Val
NM_001363528.2:c.4882C>G NP_001350457.1:p.Leu1628Val
NM_001370404.1:c.4948C>G NP_001357333.1:p.Leu1650Val
NM_001370405.1:c.4951C>G NP_001357334.1:p.Leu1651Val
NM_021055.2:c.4951C>G NP_066399.2:p.Leu1651Val
NM_021055.3:c.4951C>G NP_066399.2:p.Leu1651Val
ENST00000219476.7:c.5080C>G ENSP00000219476.3:p.Leu1694Val
ENST00000350773.8:c.5011C>G ENSP00000344383.4:p.Leu1671Val
ENST00000350773.9:c.5011C>G ENSP00000344383.4:p.Leu1671Val
ENST00000382538.10:c.4735C>G ENSP00000371978.6:p.Leu1579Val
ENST00000401874.6:c.4879C>G ENSP00000384468.2:p.Leu1627Val
ENST00000401874.7:c.4879C>G ENSP00000384468.2:p.Leu1627Val
ENST00000439117.6:c.*4247C>G ENSP00000406980.2:n.*4247C>G
ENST00000439673.6:c.4771C>G ENSP00000399232.2:p.Leu1591Val
ENST00000497886.5:n.2803C>G
ENST00000568454.5:c.4912C>G ENSP00000454487.1:p.Leu1638Val
ENST00000568454.6:c.4912C>G ENSP00000454487.1:p.Leu1638Val
ENST00000568566.6:c.*3429C>G ENSP00000455997.2:n.*3429C>G
ENST00000569110.1:c.1262C>G
ENST00000569110.2:c.1303C>G
ENST00000569930.1:n.2195C>G
ENST00000569930.2:n.2962C>G
ENST00000642206.2:c.4927C>G ENSP00000495146.2:p.Leu1643Val
ENST00000642365.1:c.3734C>G
ENST00000642365.2:c.5077C>G ENSP00000495459.2:p.Leu1693Val
ENST00000642561.1:c.4951C>G ENSP00000495099.1:p.Leu1651Val
ENST00000642791.1:n.677C>G
ENST00000642797.1:c.4882C>G ENSP00000493846.1:p.Leu1628Val
ENST00000642936.1:c.4948C>G ENSP00000494514.1:p.Leu1650Val
ENST00000643088.1:c.4873C>G ENSP00000494747.1:p.Leu1625Val
ENST00000643426.1:n.2728C>G
ENST00000643946.1:c.5005C>G ENSP00000495927.1:p.Leu1669Val
ENST00000644043.1:c.4951C>G ENSP00000496262.1:p.Leu1651Val
ENST00000644329.1:c.4879C>G ENSP00000496611.1:p.Leu1627Val
ENST00000644335.1:c.4876C>G ENSP00000496317.1:p.Leu1626Val
ENST00000644399.1:c.5001C>G
ENST00000644417.2:c.*5593C>G ENSP00000493912.2:n.*5593C>G
ENST00000645024.1:n.3164C>G
ENST00000646388.1:c.5074C>G ENSP00000495921.1:p.Leu1692Val
ENST00000646464.2:c.*7829C>G ENSP00000496610.2:n.*7829C>G
ENST00000646634.1:n.3895C>G
ENST00000646674.1:n.2332C>G
ENST00000647042.1:n.2303C>G
ENST00000647180.1:n.2193C>G
XM_005255529.3:c.4951C>G XP_005255586.2:p.Leu1651Val
XM_005255531.3:c.4882C>G XP_005255588.2:p.Leu1628Val
XM_005255531.4:c.4882C>G XP_005255588.2:p.Leu1628Val
XM_011522636.1:c.5134C>G XP_011520938.1:p.Leu1712Val
XM_011522636.2:c.5134C>G XP_011520938.1:p.Leu1712Val
XM_011522637.1:c.5131C>G XP_011520939.1:p.Leu1711Val
XM_011522637.2:c.5131C>G XP_011520939.1:p.Leu1711Val
XM_011522638.1:c.5023C>G XP_011520940.1:p.Leu1675Val
XM_011522638.2:c.5296C>G XP_011520940.2:p.Leu1766Val
XM_011522639.1:c.5005C>G XP_011520941.1:p.Leu1669Val
XM_011522639.2:c.5005C>G XP_011520941.1:p.Leu1669Val
XM_011522640.1:c.5002C>G XP_011520942.1:p.Leu1668Val
XM_011522640.2:c.5002C>G XP_011520942.1:p.Leu1668Val
XM_011522641.1:c.4771C>G XP_011520943.1:p.Leu1591Val
XM_017023615.1:c.5077C>G XP_016879104.1:p.Leu1693Val
XM_017023616.1:c.4948C>G XP_016879105.1:p.Leu1650Val
XM_017023617.1:c.5044C>G XP_016879106.1:p.Leu1682Val
XM_017023618.1:c.3790C>G XP_016879107.1:p.Leu1264Val
XM_024450413.1:c.4879C>G XP_024306181.1:p.Leu1627Val