Canonical Allele Identifier: CA394309030
Community Standard Title: NM_000548.5(TSC2):c.4966G>T (p.Asp1656Tyr)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086848G>T , CM000678.2:g.2086848G>T GRCh38
NC_000016.9:g.2136849G>T , CM000678.1:g.2136849G>T GRCh37
NC_000016.8:g.2076850G>T NCBI36
NG_005895.1:g.42543G>T , LRG_487:g.42543G>T
NG_008617.1:g.56373C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4966G>T MANE Select NP_000539.2:p.Asp1656Tyr
ENST00000219476.9:c.4966G>T MANE Select ENSP00000219476.3:p.Asp1656Tyr
NM_000548.3:c.4966G>T , LRG_487t1:c.4966G>T NP_000539.2:p.Asp1656Tyr
NM_000548.4:c.4966G>T NP_000539.2:p.Asp1656Tyr
NM_001077183.1:c.4765G>T NP_001070651.1:p.Asp1589Tyr
NM_001077183.2:c.4765G>T NP_001070651.1:p.Asp1589Tyr
NM_001077183.3:c.4765G>T NP_001070651.1:p.Asp1589Tyr
NM_001114382.1:c.4897G>T NP_001107854.1:p.Asp1633Tyr
NM_001114382.2:c.4897G>T NP_001107854.1:p.Asp1633Tyr
NM_001114382.3:c.4897G>T NP_001107854.1:p.Asp1633Tyr
NM_001318827.1:c.4657G>T NP_001305756.1:p.Asp1553Tyr
NM_001318827.2:c.4657G>T NP_001305756.1:p.Asp1553Tyr
NM_001318829.1:c.4621G>T NP_001305758.1:p.Asp1541Tyr
NM_001318829.2:c.4621G>T NP_001305758.1:p.Asp1541Tyr
NM_001318831.1:c.4234G>T NP_001305760.1:p.Asp1412Tyr
NM_001318831.2:c.4234G>T NP_001305760.1:p.Asp1412Tyr
NM_001318832.1:c.4798G>T NP_001305761.1:p.Asp1600Tyr
NM_001318832.2:c.4798G>T NP_001305761.1:p.Asp1600Tyr
NM_001363528.1:c.4768G>T NP_001350457.1:p.Asp1590Tyr
NM_001363528.2:c.4768G>T NP_001350457.1:p.Asp1590Tyr
NM_001370404.1:c.4834G>T NP_001357333.1:p.Asp1612Tyr
NM_001370405.1:c.4837G>T NP_001357334.1:p.Asp1613Tyr
NM_021055.2:c.4837G>T NP_066399.2:p.Asp1613Tyr
NM_021055.3:c.4837G>T NP_066399.2:p.Asp1613Tyr
ENST00000219476.7:c.4966G>T ENSP00000219476.3:p.Asp1656Tyr
ENST00000350773.8:c.4897G>T ENSP00000344383.4:p.Asp1633Tyr
ENST00000350773.9:c.4897G>T ENSP00000344383.4:p.Asp1633Tyr
ENST00000382538.10:c.4621G>T ENSP00000371978.6:p.Asp1541Tyr
ENST00000401874.6:c.4765G>T ENSP00000384468.2:p.Asp1589Tyr
ENST00000401874.7:c.4765G>T ENSP00000384468.2:p.Asp1589Tyr
ENST00000439117.6:c.*4133G>T ENSP00000406980.2:n.*4133G>T
ENST00000439673.6:c.4657G>T ENSP00000399232.2:p.Asp1553Tyr
ENST00000497886.5:n.2689G>T
ENST00000568454.5:c.4798G>T ENSP00000454487.1:p.Asp1600Tyr
ENST00000568454.6:c.4798G>T ENSP00000454487.1:p.Asp1600Tyr
ENST00000568566.6:c.*3315G>T ENSP00000455997.2:n.*3315G>T
ENST00000569110.1:c.1148G>T
ENST00000569110.2:c.1189G>T
ENST00000569930.1:n.2081G>T
ENST00000569930.2:n.2848G>T
ENST00000642206.2:c.4813G>T ENSP00000495146.2:p.Asp1605Tyr
ENST00000642365.1:c.3620G>T
ENST00000642365.2:c.4963G>T ENSP00000495459.2:p.Asp1655Tyr
ENST00000642561.1:c.4837G>T ENSP00000495099.1:p.Asp1613Tyr
ENST00000642728.1:n.1148G>T
ENST00000642791.1:n.563G>T
ENST00000642797.1:c.4768G>T ENSP00000493846.1:p.Asp1590Tyr
ENST00000642936.1:c.4834G>T ENSP00000494514.1:p.Asp1612Tyr
ENST00000643088.1:c.4759G>T ENSP00000494747.1:p.Asp1587Tyr
ENST00000643177.1:n.980G>T
ENST00000643426.1:n.2614G>T
ENST00000643946.1:c.4891G>T ENSP00000495927.1:p.Asp1631Tyr
ENST00000644043.1:c.4837G>T ENSP00000496262.1:p.Asp1613Tyr
ENST00000644278.1:n.448G>T
ENST00000644329.1:c.4765G>T ENSP00000496611.1:p.Asp1589Tyr
ENST00000644335.1:c.4762G>T ENSP00000496317.1:p.Asp1588Tyr
ENST00000644399.1:c.4887G>T
ENST00000644417.2:c.*5479G>T ENSP00000493912.2:n.*5479G>T
ENST00000645024.1:n.3050G>T
ENST00000646388.1:c.4960G>T ENSP00000495921.1:p.Asp1654Tyr
ENST00000646464.2:c.*7715G>T ENSP00000496610.2:n.*7715G>T
ENST00000646557.1:n.127G>T
ENST00000646634.1:n.3781G>T
ENST00000646674.1:n.2218G>T
ENST00000647042.1:n.2189G>T
ENST00000647180.1:n.2079G>T
XM_005255529.3:c.4837G>T XP_005255586.2:p.Asp1613Tyr
XM_005255531.3:c.4768G>T XP_005255588.2:p.Asp1590Tyr
XM_005255531.4:c.4768G>T XP_005255588.2:p.Asp1590Tyr
XM_011522636.1:c.5020G>T XP_011520938.1:p.Asp1674Tyr
XM_011522636.2:c.5020G>T XP_011520938.1:p.Asp1674Tyr
XM_011522637.1:c.5017G>T XP_011520939.1:p.Asp1673Tyr
XM_011522637.2:c.5017G>T XP_011520939.1:p.Asp1673Tyr
XM_011522638.1:c.4909G>T XP_011520940.1:p.Asp1637Tyr
XM_011522638.2:c.5182G>T XP_011520940.2:p.Asp1728Tyr
XM_011522639.1:c.4891G>T XP_011520941.1:p.Asp1631Tyr
XM_011522639.2:c.4891G>T XP_011520941.1:p.Asp1631Tyr
XM_011522640.1:c.4888G>T XP_011520942.1:p.Asp1630Tyr
XM_011522640.2:c.4888G>T XP_011520942.1:p.Asp1630Tyr
XM_011522641.1:c.4657G>T XP_011520943.1:p.Asp1553Tyr
XM_017023615.1:c.4963G>T XP_016879104.1:p.Asp1655Tyr
XM_017023616.1:c.4834G>T XP_016879105.1:p.Asp1612Tyr
XM_017023617.1:c.4930G>T XP_016879106.1:p.Asp1644Tyr
XM_017023618.1:c.3676G>T XP_016879107.1:p.Asp1226Tyr
XM_024450413.1:c.4765G>T XP_024306181.1:p.Asp1589Tyr