Canonical Allele Identifier: CA394311355
Community Standard Title: NM_000548.5(TSC2):c.5035G>C (p.Glu1679Gln)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2087908G>C , CM000678.2:g.2087908G>C GRCh38
NC_000016.9:g.2137909G>C , CM000678.1:g.2137909G>C GRCh37
NC_000016.8:g.2077910G>C NCBI36
NG_005895.1:g.43603G>C , LRG_487:g.43603G>C
NG_008617.1:g.55313C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5035G>C MANE Select NP_000539.2:p.Glu1679Gln
ENST00000219476.9:c.5035G>C MANE Select ENSP00000219476.3:p.Glu1679Gln
NM_000548.3:c.5035G>C , LRG_487t1:c.5035G>C NP_000539.2:p.Glu1679Gln
NM_000548.4:c.5035G>C NP_000539.2:p.Glu1679Gln
NM_001077183.1:c.4834G>C NP_001070651.1:p.Glu1612Gln
NM_001077183.2:c.4834G>C NP_001070651.1:p.Glu1612Gln
NM_001077183.3:c.4834G>C NP_001070651.1:p.Glu1612Gln
NM_001114382.1:c.4966G>C NP_001107854.1:p.Glu1656Gln
NM_001114382.2:c.4966G>C NP_001107854.1:p.Glu1656Gln
NM_001114382.3:c.4966G>C NP_001107854.1:p.Glu1656Gln
NM_001318827.1:c.4726G>C NP_001305756.1:p.Glu1576Gln
NM_001318827.2:c.4726G>C NP_001305756.1:p.Glu1576Gln
NM_001318829.1:c.4690G>C NP_001305758.1:p.Glu1564Gln
NM_001318829.2:c.4690G>C NP_001305758.1:p.Glu1564Gln
NM_001318831.1:c.4303G>C NP_001305760.1:p.Glu1435Gln
NM_001318831.2:c.4303G>C NP_001305760.1:p.Glu1435Gln
NM_001318832.1:c.4867G>C NP_001305761.1:p.Glu1623Gln
NM_001318832.2:c.4867G>C NP_001305761.1:p.Glu1623Gln
NM_001363528.1:c.4837G>C NP_001350457.1:p.Glu1613Gln
NM_001363528.2:c.4837G>C NP_001350457.1:p.Glu1613Gln
NM_001370404.1:c.4903G>C NP_001357333.1:p.Glu1635Gln
NM_001370405.1:c.4906G>C NP_001357334.1:p.Glu1636Gln
NM_021055.2:c.4906G>C NP_066399.2:p.Glu1636Gln
NM_021055.3:c.4906G>C NP_066399.2:p.Glu1636Gln
ENST00000219476.7:c.5035G>C ENSP00000219476.3:p.Glu1679Gln
ENST00000350773.8:c.4966G>C ENSP00000344383.4:p.Glu1656Gln
ENST00000350773.9:c.4966G>C ENSP00000344383.4:p.Glu1656Gln
ENST00000382538.10:c.4690G>C ENSP00000371978.6:p.Glu1564Gln
ENST00000401874.6:c.4834G>C ENSP00000384468.2:p.Glu1612Gln
ENST00000401874.7:c.4834G>C ENSP00000384468.2:p.Glu1612Gln
ENST00000439117.6:c.*4202G>C ENSP00000406980.2:n.*4202G>C
ENST00000439673.6:c.4726G>C ENSP00000399232.2:p.Glu1576Gln
ENST00000497886.5:n.2758G>C
ENST00000568454.5:c.4867G>C ENSP00000454487.1:p.Glu1623Gln
ENST00000568454.6:c.4867G>C ENSP00000454487.1:p.Glu1623Gln
ENST00000568566.6:c.*3384G>C ENSP00000455997.2:n.*3384G>C
ENST00000569110.1:c.1217G>C
ENST00000569110.2:c.1258G>C
ENST00000569930.1:n.2150G>C
ENST00000569930.2:n.2917G>C
ENST00000642206.2:c.4882G>C ENSP00000495146.2:p.Glu1628Gln
ENST00000642365.1:c.3689G>C
ENST00000642365.2:c.5032G>C ENSP00000495459.2:p.Glu1678Gln
ENST00000642561.1:c.4906G>C ENSP00000495099.1:p.Glu1636Gln
ENST00000642791.1:n.632G>C
ENST00000642797.1:c.4837G>C ENSP00000493846.1:p.Glu1613Gln
ENST00000642936.1:c.4903G>C ENSP00000494514.1:p.Glu1635Gln
ENST00000643088.1:c.4828G>C ENSP00000494747.1:p.Glu1610Gln
ENST00000643177.1:n.1049G>C
ENST00000643426.1:n.2683G>C
ENST00000643946.1:c.4960G>C ENSP00000495927.1:p.Glu1654Gln
ENST00000644043.1:c.4906G>C ENSP00000496262.1:p.Glu1636Gln
ENST00000644278.1:n.517G>C
ENST00000644329.1:c.4834G>C ENSP00000496611.1:p.Glu1612Gln
ENST00000644335.1:c.4831G>C ENSP00000496317.1:p.Glu1611Gln
ENST00000644399.1:c.4956G>C
ENST00000644417.2:c.*5548G>C ENSP00000493912.2:n.*5548G>C
ENST00000645024.1:n.3119G>C
ENST00000646388.1:c.5029G>C ENSP00000495921.1:p.Glu1677Gln
ENST00000646464.2:c.*7784G>C ENSP00000496610.2:n.*7784G>C
ENST00000646634.1:n.3850G>C
ENST00000646674.1:n.2287G>C
ENST00000647042.1:n.2258G>C
ENST00000647180.1:n.2148G>C
XM_005255529.3:c.4906G>C XP_005255586.2:p.Glu1636Gln
XM_005255531.3:c.4837G>C XP_005255588.2:p.Glu1613Gln
XM_005255531.4:c.4837G>C XP_005255588.2:p.Glu1613Gln
XM_011522636.1:c.5089G>C XP_011520938.1:p.Glu1697Gln
XM_011522636.2:c.5089G>C XP_011520938.1:p.Glu1697Gln
XM_011522637.1:c.5086G>C XP_011520939.1:p.Glu1696Gln
XM_011522637.2:c.5086G>C XP_011520939.1:p.Glu1696Gln
XM_011522638.1:c.4978G>C XP_011520940.1:p.Glu1660Gln
XM_011522638.2:c.5251G>C XP_011520940.2:p.Glu1751Gln
XM_011522639.1:c.4960G>C XP_011520941.1:p.Glu1654Gln
XM_011522639.2:c.4960G>C XP_011520941.1:p.Glu1654Gln
XM_011522640.1:c.4957G>C XP_011520942.1:p.Glu1653Gln
XM_011522640.2:c.4957G>C XP_011520942.1:p.Glu1653Gln
XM_011522641.1:c.4726G>C XP_011520943.1:p.Glu1576Gln
XM_017023615.1:c.5032G>C XP_016879104.1:p.Glu1678Gln
XM_017023616.1:c.4903G>C XP_016879105.1:p.Glu1635Gln
XM_017023617.1:c.4999G>C XP_016879106.1:p.Glu1667Gln
XM_017023618.1:c.3745G>C XP_016879107.1:p.Glu1249Gln
XM_024450413.1:c.4834G>C XP_024306181.1:p.Glu1612Gln