Canonical Allele Identifier: CA018479
Community Standard Title: NM_000548.5(TSC2):c.3083A>G (p.Asp1028Gly)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2079148A>G , CM000678.2:g.2079148A>G GRCh38
NC_000016.9:g.2129149A>G , CM000678.1:g.2129149A>G GRCh37
NC_000016.8:g.2069150A>G NCBI36
NG_005895.1:g.34843A>G , LRG_487:g.34843A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.3083A>G MANE Select NP_000539.2:p.Asp1028Gly
ENST00000219476.9:c.3083A>G MANE Select ENSP00000219476.3:p.Asp1028Gly
NM_000548.3:c.3083A>G , LRG_487t1:c.3083A>G NP_000539.2:p.Asp1028Gly
NM_000548.4:c.3083A>G NP_000539.2:p.Asp1028Gly
NM_001077183.1:c.2951A>G NP_001070651.1:p.Asp984Gly
NM_001077183.2:c.2951A>G NP_001070651.1:p.Asp984Gly
NM_001077183.3:c.2951A>G NP_001070651.1:p.Asp984Gly
NM_001114382.1:c.3083A>G NP_001107854.1:p.Asp1028Gly
NM_001114382.2:c.3083A>G NP_001107854.1:p.Asp1028Gly
NM_001114382.3:c.3083A>G NP_001107854.1:p.Asp1028Gly
NM_001318827.1:c.2843A>G NP_001305756.1:p.Asp948Gly
NM_001318827.2:c.2843A>G NP_001305756.1:p.Asp948Gly
NM_001318829.1:c.2807A>G NP_001305758.1:p.Asp936Gly
NM_001318829.2:c.2807A>G NP_001305758.1:p.Asp936Gly
NM_001318831.1:c.2351A>G NP_001305760.1:p.Asp784Gly
NM_001318831.2:c.2351A>G NP_001305760.1:p.Asp784Gly
NM_001318832.1:c.2984A>G NP_001305761.1:p.Asp995Gly
NM_001318832.2:c.2984A>G NP_001305761.1:p.Asp995Gly
NM_001363528.1:c.2954A>G NP_001350457.1:p.Asp985Gly
NM_001363528.2:c.2954A>G NP_001350457.1:p.Asp985Gly
NM_001370404.1:c.2951A>G NP_001357333.1:p.Asp984Gly
NM_001370405.1:c.2954A>G NP_001357334.1:p.Asp985Gly
NM_021055.2:c.2954A>G NP_066399.2:p.Asp985Gly
NM_021055.3:c.2954A>G NP_066399.2:p.Asp985Gly
ENST00000219476.7:c.3083A>G ENSP00000219476.3:p.Asp1028Gly
ENST00000350773.8:c.3083A>G ENSP00000344383.4:p.Asp1028Gly
ENST00000350773.9:c.3083A>G ENSP00000344383.4:p.Asp1028Gly
ENST00000382538.10:c.2807A>G ENSP00000371978.6:p.Asp936Gly
ENST00000401874.6:c.2951A>G ENSP00000384468.2:p.Asp984Gly
ENST00000401874.7:c.2951A>G ENSP00000384468.2:p.Asp984Gly
ENST00000439117.6:c.*2250A>G ENSP00000406980.2:n.*2250A>G
ENST00000439673.6:c.2843A>G ENSP00000399232.2:p.Asp948Gly
ENST00000471143.5:c.309A>G
ENST00000471143.6:c.311A>G ENSP00000458541.2:n.311A>G
ENST00000483020.5:c.323A>G ENSP00000460310.1:n.323A>G
ENST00000497886.5:n.910A>G
ENST00000561695.1:n.229A>G
ENST00000568366.5:n.440A>G
ENST00000568366.6:n.440A>G
ENST00000568454.5:c.2984A>G ENSP00000454487.1:p.Asp995Gly
ENST00000568454.6:c.2984A>G ENSP00000454487.1:p.Asp995Gly
ENST00000568566.6:c.*1501A>G ENSP00000455997.2:n.*1501A>G
ENST00000642206.2:c.2999A>G ENSP00000495146.2:p.Asp1000Gly
ENST00000642365.1:c.1737A>G
ENST00000642365.2:c.3080A>G ENSP00000495459.2:p.Asp1027Gly
ENST00000642561.1:c.2954A>G ENSP00000495099.1:p.Asp985Gly
ENST00000642797.1:c.2954A>G ENSP00000493846.1:p.Asp985Gly
ENST00000642936.1:c.2951A>G ENSP00000494514.1:p.Asp984Gly
ENST00000643088.1:c.2951A>G ENSP00000494747.1:p.Asp984Gly
ENST00000643946.1:c.3083A>G ENSP00000495927.1:p.Asp1028Gly
ENST00000644043.1:c.2954A>G ENSP00000496262.1:p.Asp985Gly
ENST00000644329.1:c.2951A>G ENSP00000496611.1:p.Asp984Gly
ENST00000644335.1:c.2954A>G ENSP00000496317.1:p.Asp985Gly
ENST00000644399.1:c.3073A>G
ENST00000644417.2:c.*3532A>G ENSP00000493912.2:n.*3532A>G
ENST00000644722.1:n.229A>G
ENST00000645024.1:n.1236A>G
ENST00000646388.1:c.3083A>G ENSP00000495921.1:p.Asp1028Gly
ENST00000646464.2:c.*4005A>G ENSP00000496610.2:n.*4005A>G
ENST00000646634.1:n.1967A>G
ENST00000647042.1:n.375A>G
XM_005255529.3:c.2954A>G XP_005255586.2:p.Asp985Gly
XM_005255531.3:c.2954A>G XP_005255588.2:p.Asp985Gly
XM_005255531.4:c.2954A>G XP_005255588.2:p.Asp985Gly
XM_011522636.1:c.3083A>G XP_011520938.1:p.Asp1028Gly
XM_011522636.2:c.3083A>G XP_011520938.1:p.Asp1028Gly
XM_011522637.1:c.3080A>G XP_011520939.1:p.Asp1027Gly
XM_011522637.2:c.3080A>G XP_011520939.1:p.Asp1027Gly
XM_011522638.1:c.2972A>G XP_011520940.1:p.Asp991Gly
XM_011522638.2:c.3245A>G XP_011520940.2:p.Asp1082Gly
XM_011522639.1:c.2954A>G XP_011520941.1:p.Asp985Gly
XM_011522639.2:c.2954A>G XP_011520941.1:p.Asp985Gly
XM_011522640.1:c.2951A>G XP_011520942.1:p.Asp984Gly
XM_011522640.2:c.2951A>G XP_011520942.1:p.Asp984Gly
XM_011522641.1:c.2843A>G XP_011520943.1:p.Asp948Gly
XM_017023615.1:c.3080A>G XP_016879104.1:p.Asp1027Gly
XM_017023616.1:c.2951A>G XP_016879105.1:p.Asp984Gly
XM_017023617.1:c.3116A>G XP_016879106.1:p.Asp1039Gly
XM_017023618.1:c.1739A>G XP_016879107.1:p.Asp580Gly
XM_024450413.1:c.2951A>G XP_024306181.1:p.Asp984Gly