Canonical Allele Identifier: CA394312331
Community Standard Title: NM_000548.5(TSC2):c.5115C>G (p.Asp1705Glu)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088094C>G , CM000678.2:g.2088094C>G GRCh38
NC_000016.9:g.2138095C>G , CM000678.1:g.2138095C>G GRCh37
NC_000016.8:g.2078096C>G NCBI36
NG_005895.1:g.43789C>G , LRG_487:g.43789C>G
NG_008617.1:g.55127G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5115C>G MANE Select NP_000539.2:p.Asp1705Glu
ENST00000219476.9:c.5115C>G MANE Select ENSP00000219476.3:p.Asp1705Glu
NM_000548.3:c.5115C>G , LRG_487t1:c.5115C>G NP_000539.2:p.Asp1705Glu
NM_000548.4:c.5115C>G NP_000539.2:p.Asp1705Glu
NM_001077183.1:c.4914C>G NP_001070651.1:p.Asp1638Glu
NM_001077183.2:c.4914C>G NP_001070651.1:p.Asp1638Glu
NM_001077183.3:c.4914C>G NP_001070651.1:p.Asp1638Glu
NM_001114382.1:c.5046C>G NP_001107854.1:p.Asp1682Glu
NM_001114382.2:c.5046C>G NP_001107854.1:p.Asp1682Glu
NM_001114382.3:c.5046C>G NP_001107854.1:p.Asp1682Glu
NM_001318827.1:c.4806C>G NP_001305756.1:p.Asp1602Glu
NM_001318827.2:c.4806C>G NP_001305756.1:p.Asp1602Glu
NM_001318829.1:c.4770C>G NP_001305758.1:p.Asp1590Glu
NM_001318829.2:c.4770C>G NP_001305758.1:p.Asp1590Glu
NM_001318831.1:c.4383C>G NP_001305760.1:p.Asp1461Glu
NM_001318831.2:c.4383C>G NP_001305760.1:p.Asp1461Glu
NM_001318832.1:c.4947C>G NP_001305761.1:p.Asp1649Glu
NM_001318832.2:c.4947C>G NP_001305761.1:p.Asp1649Glu
NM_001363528.1:c.4917C>G NP_001350457.1:p.Asp1639Glu
NM_001363528.2:c.4917C>G NP_001350457.1:p.Asp1639Glu
NM_001370404.1:c.4983C>G NP_001357333.1:p.Asp1661Glu
NM_001370405.1:c.4986C>G NP_001357334.1:p.Asp1662Glu
NM_021055.2:c.4986C>G NP_066399.2:p.Asp1662Glu
NM_021055.3:c.4986C>G NP_066399.2:p.Asp1662Glu
ENST00000219476.7:c.5115C>G ENSP00000219476.3:p.Asp1705Glu
ENST00000350773.8:c.5046C>G ENSP00000344383.4:p.Asp1682Glu
ENST00000350773.9:c.5046C>G ENSP00000344383.4:p.Asp1682Glu
ENST00000382538.10:c.4770C>G ENSP00000371978.6:p.Asp1590Glu
ENST00000401874.6:c.4914C>G ENSP00000384468.2:p.Asp1638Glu
ENST00000401874.7:c.4914C>G ENSP00000384468.2:p.Asp1638Glu
ENST00000439117.6:c.*4282C>G ENSP00000406980.2:n.*4282C>G
ENST00000439673.6:c.4806C>G ENSP00000399232.2:p.Asp1602Glu
ENST00000497886.5:n.2838C>G
ENST00000568454.5:c.4947C>G ENSP00000454487.1:p.Asp1649Glu
ENST00000568454.6:c.4947C>G ENSP00000454487.1:p.Asp1649Glu
ENST00000568566.6:c.*3464C>G ENSP00000455997.2:n.*3464C>G
ENST00000569110.1:c.1297C>G
ENST00000569110.2:c.1338C>G
ENST00000569930.1:n.2230C>G
ENST00000569930.2:n.2997C>G
ENST00000642206.2:c.4962C>G ENSP00000495146.2:p.Asp1654Glu
ENST00000642365.1:c.3769C>G
ENST00000642365.2:c.5112C>G ENSP00000495459.2:p.Asp1704Glu
ENST00000642561.1:c.4986C>G ENSP00000495099.1:p.Asp1662Glu
ENST00000642791.1:n.712C>G
ENST00000642797.1:c.4917C>G ENSP00000493846.1:p.Asp1639Glu
ENST00000642936.1:c.4983C>G ENSP00000494514.1:p.Asp1661Glu
ENST00000643088.1:c.4908C>G ENSP00000494747.1:p.Asp1636Glu
ENST00000643426.1:n.2763C>G
ENST00000643946.1:c.5040C>G ENSP00000495927.1:p.Asp1680Glu
ENST00000644043.1:c.4986C>G ENSP00000496262.1:p.Asp1662Glu
ENST00000644329.1:c.4914C>G ENSP00000496611.1:p.Asp1638Glu
ENST00000644335.1:c.4911C>G ENSP00000496317.1:p.Asp1637Glu
ENST00000644399.1:c.5036C>G
ENST00000644417.2:c.*5628C>G ENSP00000493912.2:n.*5628C>G
ENST00000645024.1:n.3199C>G
ENST00000646388.1:c.5109C>G ENSP00000495921.1:p.Asp1703Glu
ENST00000646464.2:c.*7864C>G ENSP00000496610.2:n.*7864C>G
ENST00000646634.1:n.3930C>G
ENST00000646674.1:n.2367C>G
ENST00000647042.1:n.2338C>G
ENST00000647180.1:n.2228C>G
XM_005255529.3:c.4986C>G XP_005255586.2:p.Asp1662Glu
XM_005255531.3:c.4917C>G XP_005255588.2:p.Asp1639Glu
XM_005255531.4:c.4917C>G XP_005255588.2:p.Asp1639Glu
XM_011522636.1:c.5169C>G XP_011520938.1:p.Asp1723Glu
XM_011522636.2:c.5169C>G XP_011520938.1:p.Asp1723Glu
XM_011522637.1:c.5166C>G XP_011520939.1:p.Asp1722Glu
XM_011522637.2:c.5166C>G XP_011520939.1:p.Asp1722Glu
XM_011522638.1:c.5058C>G XP_011520940.1:p.Asp1686Glu
XM_011522638.2:c.5331C>G XP_011520940.2:p.Asp1777Glu
XM_011522639.1:c.5040C>G XP_011520941.1:p.Asp1680Glu
XM_011522639.2:c.5040C>G XP_011520941.1:p.Asp1680Glu
XM_011522640.1:c.5037C>G XP_011520942.1:p.Asp1679Glu
XM_011522640.2:c.5037C>G XP_011520942.1:p.Asp1679Glu
XM_011522641.1:c.4806C>G XP_011520943.1:p.Asp1602Glu
XM_017023615.1:c.5112C>G XP_016879104.1:p.Asp1704Glu
XM_017023616.1:c.4983C>G XP_016879105.1:p.Asp1661Glu
XM_017023617.1:c.5079C>G XP_016879106.1:p.Asp1693Glu
XM_017023618.1:c.3825C>G XP_016879107.1:p.Asp1275Glu
XM_024450413.1:c.4914C>G XP_024306181.1:p.Asp1638Glu