Canonical Allele Identifier: CA394293465
Community Standard Title: NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2081771C>T , CM000678.2:g.2081771C>T GRCh38
NC_000016.9:g.2131772C>T , CM000678.1:g.2131772C>T GRCh37
NC_000016.8:g.2071773C>T NCBI36
NG_005895.1:g.37466C>T , LRG_487:g.37466C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.3787C>T MANE Select NP_000539.2:p.Pro1263Ser
ENST00000219476.9:c.3787C>T MANE Select ENSP00000219476.3:p.Pro1263Ser
NM_000548.3:c.3787C>T , LRG_487t1:c.3787C>T NP_000539.2:p.Pro1263Ser
NM_000548.4:c.3787C>T NP_000539.2:p.Pro1263Ser
NM_001077183.1:c.3655C>T NP_001070651.1:p.Pro1219Ser
NM_001077183.2:c.3655C>T NP_001070651.1:p.Pro1219Ser
NM_001077183.3:c.3655C>T NP_001070651.1:p.Pro1219Ser
NM_001114382.1:c.3787C>T NP_001107854.1:p.Pro1263Ser
NM_001114382.2:c.3787C>T NP_001107854.1:p.Pro1263Ser
NM_001114382.3:c.3787C>T NP_001107854.1:p.Pro1263Ser
NM_001318827.1:c.3547C>T NP_001305756.1:p.Pro1183Ser
NM_001318827.2:c.3547C>T NP_001305756.1:p.Pro1183Ser
NM_001318829.1:c.3511C>T NP_001305758.1:p.Pro1171Ser
NM_001318829.2:c.3511C>T NP_001305758.1:p.Pro1171Ser
NM_001318831.1:c.3055C>T NP_001305760.1:p.Pro1019Ser
NM_001318831.2:c.3055C>T NP_001305760.1:p.Pro1019Ser
NM_001318832.1:c.3688C>T NP_001305761.1:p.Pro1230Ser
NM_001318832.2:c.3688C>T NP_001305761.1:p.Pro1230Ser
NM_001363528.1:c.3658C>T NP_001350457.1:p.Pro1220Ser
NM_001363528.2:c.3658C>T NP_001350457.1:p.Pro1220Ser
NM_001370404.1:c.3655C>T NP_001357333.1:p.Pro1219Ser
NM_001370405.1:c.3658C>T NP_001357334.1:p.Pro1220Ser
NM_021055.2:c.3658C>T NP_066399.2:p.Pro1220Ser
NM_021055.3:c.3658C>T NP_066399.2:p.Pro1220Ser
ENST00000219476.7:c.3787C>T ENSP00000219476.3:p.Pro1263Ser
ENST00000350773.8:c.3787C>T ENSP00000344383.4:p.Pro1263Ser
ENST00000350773.9:c.3787C>T ENSP00000344383.4:p.Pro1263Ser
ENST00000382538.10:c.3511C>T ENSP00000371978.6:p.Pro1171Ser
ENST00000401874.6:c.3655C>T ENSP00000384468.2:p.Pro1219Ser
ENST00000401874.7:c.3655C>T ENSP00000384468.2:p.Pro1219Ser
ENST00000439117.6:c.*2954C>T ENSP00000406980.2:n.*2954C>T
ENST00000439673.6:c.3547C>T ENSP00000399232.2:p.Pro1183Ser
ENST00000497886.5:n.1614C>T
ENST00000568454.5:c.3688C>T ENSP00000454487.1:p.Pro1230Ser
ENST00000568454.6:c.3688C>T ENSP00000454487.1:p.Pro1230Ser
ENST00000568566.6:c.*2205C>T ENSP00000455997.2:n.*2205C>T
ENST00000642206.2:c.3703C>T ENSP00000495146.2:p.Pro1235Ser
ENST00000642365.1:c.2441C>T
ENST00000642365.2:c.3784C>T ENSP00000495459.2:p.Pro1262Ser
ENST00000642561.1:c.3658C>T ENSP00000495099.1:p.Pro1220Ser
ENST00000642797.1:c.3658C>T ENSP00000493846.1:p.Pro1220Ser
ENST00000642936.1:c.3655C>T ENSP00000494514.1:p.Pro1219Ser
ENST00000643088.1:c.3655C>T ENSP00000494747.1:p.Pro1219Ser
ENST00000643426.1:n.1435C>T
ENST00000643533.1:n.297C>T
ENST00000643946.1:c.3787C>T ENSP00000495927.1:p.Pro1263Ser
ENST00000644043.1:c.3658C>T ENSP00000496262.1:p.Pro1220Ser
ENST00000644329.1:c.3655C>T ENSP00000496611.1:p.Pro1219Ser
ENST00000644335.1:c.3658C>T ENSP00000496317.1:p.Pro1220Ser
ENST00000644399.1:c.3777C>T
ENST00000644417.2:c.*4236C>T ENSP00000493912.2:n.*4236C>T
ENST00000644722.1:n.933C>T
ENST00000645024.1:n.1940C>T
ENST00000646388.1:c.3787C>T ENSP00000495921.1:p.Pro1263Ser
ENST00000646464.2:c.*4709C>T ENSP00000496610.2:n.*4709C>T
ENST00000646634.1:n.2671C>T
ENST00000646674.1:n.402C>T
ENST00000647042.1:n.1079C>T
ENST00000647180.1:n.267C>T
XM_005255529.3:c.3658C>T XP_005255586.2:p.Pro1220Ser
XM_005255531.3:c.3658C>T XP_005255588.2:p.Pro1220Ser
XM_005255531.4:c.3658C>T XP_005255588.2:p.Pro1220Ser
XM_011522636.1:c.3787C>T XP_011520938.1:p.Pro1263Ser
XM_011522636.2:c.3787C>T XP_011520938.1:p.Pro1263Ser
XM_011522637.1:c.3784C>T XP_011520939.1:p.Pro1262Ser
XM_011522637.2:c.3784C>T XP_011520939.1:p.Pro1262Ser
XM_011522638.1:c.3676C>T XP_011520940.1:p.Pro1226Ser
XM_011522638.2:c.3949C>T XP_011520940.2:p.Pro1317Ser
XM_011522639.1:c.3658C>T XP_011520941.1:p.Pro1220Ser
XM_011522639.2:c.3658C>T XP_011520941.1:p.Pro1220Ser
XM_011522640.1:c.3655C>T XP_011520942.1:p.Pro1219Ser
XM_011522640.2:c.3655C>T XP_011520942.1:p.Pro1219Ser
XM_011522641.1:c.3547C>T XP_011520943.1:p.Pro1183Ser
XM_017023615.1:c.3784C>T XP_016879104.1:p.Pro1262Ser
XM_017023616.1:c.3655C>T XP_016879105.1:p.Pro1219Ser
XM_017023617.1:c.3820C>T XP_016879106.1:p.Pro1274Ser
XM_017023618.1:c.2443C>T XP_016879107.1:p.Pro815Ser
XM_024450413.1:c.3655C>T XP_024306181.1:p.Pro1219Ser