Canonical Allele Identifier: CA043657
Community Standard Title: NM_000548.5(TSC2):c.2995A>T (p.Ser999Cys)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2079060A>T , CM000678.2:g.2079060A>T GRCh38
NC_000016.9:g.2129061A>T , CM000678.1:g.2129061A>T GRCh37
NC_000016.8:g.2069062A>T NCBI36
NG_005895.1:g.34755A>T , LRG_487:g.34755A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.2995A>T MANE Select NP_000539.2:p.Ser999Cys
ENST00000219476.9:c.2995A>T MANE Select ENSP00000219476.3:p.Ser999Cys
NM_000548.3:c.2995A>T , LRG_487t1:c.2995A>T NP_000539.2:p.Ser999Cys
NM_000548.4:c.2995A>T NP_000539.2:p.Ser999Cys
NM_001077183.1:c.2863A>T NP_001070651.1:p.Ser955Cys
NM_001077183.2:c.2863A>T NP_001070651.1:p.Ser955Cys
NM_001077183.3:c.2863A>T NP_001070651.1:p.Ser955Cys
NM_001114382.1:c.2995A>T NP_001107854.1:p.Ser999Cys
NM_001114382.2:c.2995A>T NP_001107854.1:p.Ser999Cys
NM_001114382.3:c.2995A>T NP_001107854.1:p.Ser999Cys
NM_001318827.1:c.2755A>T NP_001305756.1:p.Ser919Cys
NM_001318827.2:c.2755A>T NP_001305756.1:p.Ser919Cys
NM_001318829.1:c.2719A>T NP_001305758.1:p.Ser907Cys
NM_001318829.2:c.2719A>T NP_001305758.1:p.Ser907Cys
NM_001318831.1:c.2263A>T NP_001305760.1:p.Ser755Cys
NM_001318831.2:c.2263A>T NP_001305760.1:p.Ser755Cys
NM_001318832.1:c.2896A>T NP_001305761.1:p.Ser966Cys
NM_001318832.2:c.2896A>T NP_001305761.1:p.Ser966Cys
NM_001363528.1:c.2866A>T NP_001350457.1:p.Ser956Cys
NM_001363528.2:c.2866A>T NP_001350457.1:p.Ser956Cys
NM_001370404.1:c.2863A>T NP_001357333.1:p.Ser955Cys
NM_001370405.1:c.2866A>T NP_001357334.1:p.Ser956Cys
NM_021055.2:c.2866A>T NP_066399.2:p.Ser956Cys
NM_021055.3:c.2866A>T NP_066399.2:p.Ser956Cys
ENST00000219476.7:c.2995A>T ENSP00000219476.3:p.Ser999Cys
ENST00000350773.8:c.2995A>T ENSP00000344383.4:p.Ser999Cys
ENST00000350773.9:c.2995A>T ENSP00000344383.4:p.Ser999Cys
ENST00000382538.10:c.2719A>T ENSP00000371978.6:p.Ser907Cys
ENST00000401874.6:c.2863A>T ENSP00000384468.2:p.Ser955Cys
ENST00000401874.7:c.2863A>T ENSP00000384468.2:p.Ser955Cys
ENST00000439117.6:c.*2162A>T ENSP00000406980.2:n.*2162A>T
ENST00000439673.6:c.2755A>T ENSP00000399232.2:p.Ser919Cys
ENST00000471143.5:c.221A>T
ENST00000471143.6:c.223A>T ENSP00000458541.2:n.223A>T
ENST00000483020.5:c.235A>T ENSP00000460310.1:n.235A>T
ENST00000497886.5:n.822A>T
ENST00000561695.1:n.141A>T
ENST00000568366.5:n.352A>T
ENST00000568366.6:n.352A>T
ENST00000568454.5:c.2896A>T ENSP00000454487.1:p.Ser966Cys
ENST00000568454.6:c.2896A>T ENSP00000454487.1:p.Ser966Cys
ENST00000568566.6:c.*1413A>T ENSP00000455997.2:n.*1413A>T
ENST00000642206.2:c.2911A>T ENSP00000495146.2:p.Ser971Cys
ENST00000642365.1:c.1649A>T
ENST00000642365.2:c.2992A>T ENSP00000495459.2:p.Ser998Cys
ENST00000642561.1:c.2866A>T ENSP00000495099.1:p.Ser956Cys
ENST00000642797.1:c.2866A>T ENSP00000493846.1:p.Ser956Cys
ENST00000642936.1:c.2863A>T ENSP00000494514.1:p.Ser955Cys
ENST00000643088.1:c.2863A>T ENSP00000494747.1:p.Ser955Cys
ENST00000643946.1:c.2995A>T ENSP00000495927.1:p.Ser999Cys
ENST00000644043.1:c.2866A>T ENSP00000496262.1:p.Ser956Cys
ENST00000644329.1:c.2863A>T ENSP00000496611.1:p.Ser955Cys
ENST00000644335.1:c.2866A>T ENSP00000496317.1:p.Ser956Cys
ENST00000644399.1:c.2985A>T
ENST00000644417.2:c.*3444A>T ENSP00000493912.2:n.*3444A>T
ENST00000644722.1:n.141A>T
ENST00000645024.1:n.1148A>T
ENST00000646388.1:c.2995A>T ENSP00000495921.1:p.Ser999Cys
ENST00000646464.2:c.*3917A>T ENSP00000496610.2:n.*3917A>T
ENST00000646634.1:n.1879A>T
ENST00000647042.1:n.287A>T
XM_005255529.3:c.2866A>T XP_005255586.2:p.Ser956Cys
XM_005255531.3:c.2866A>T XP_005255588.2:p.Ser956Cys
XM_005255531.4:c.2866A>T XP_005255588.2:p.Ser956Cys
XM_011522636.1:c.2995A>T XP_011520938.1:p.Ser999Cys
XM_011522636.2:c.2995A>T XP_011520938.1:p.Ser999Cys
XM_011522637.1:c.2992A>T XP_011520939.1:p.Ser998Cys
XM_011522637.2:c.2992A>T XP_011520939.1:p.Ser998Cys
XM_011522638.1:c.2884A>T XP_011520940.1:p.Ser962Cys
XM_011522638.2:c.3157A>T XP_011520940.2:p.Ser1053Cys
XM_011522639.1:c.2866A>T XP_011520941.1:p.Ser956Cys
XM_011522639.2:c.2866A>T XP_011520941.1:p.Ser956Cys
XM_011522640.1:c.2863A>T XP_011520942.1:p.Ser955Cys
XM_011522640.2:c.2863A>T XP_011520942.1:p.Ser955Cys
XM_011522641.1:c.2755A>T XP_011520943.1:p.Ser919Cys
XM_017023615.1:c.2992A>T XP_016879104.1:p.Ser998Cys
XM_017023616.1:c.2863A>T XP_016879105.1:p.Ser955Cys
XM_017023617.1:c.3028A>T XP_016879106.1:p.Ser1010Cys
XM_017023618.1:c.1651A>T XP_016879107.1:p.Ser551Cys
XM_024450413.1:c.2863A>T XP_024306181.1:p.Ser955Cys