Canonical Allele Identifier: CA053552
Community Standard Title: NM_000548.5(TSC2):c.502A>G (p.Met168Val)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2055422A>G , CM000678.2:g.2055422A>G GRCh38
NC_000016.9:g.2105423A>G , CM000678.1:g.2105423A>G GRCh37
NC_000016.8:g.2045424A>G NCBI36
NG_005895.1:g.11117A>G , LRG_487:g.11117A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.502A>G MANE Select NP_000539.2:p.Met168Val
ENST00000219476.9:c.502A>G MANE Select ENSP00000219476.3:p.Met168Val
NM_000548.3:c.502A>G , LRG_487t1:c.502A>G NP_000539.2:p.Met168Val
NM_000548.4:c.502A>G NP_000539.2:p.Met168Val
NM_001077183.1:c.502A>G NP_001070651.1:p.Met168Val
NM_001077183.2:c.502A>G NP_001070651.1:p.Met168Val
NM_001077183.3:c.502A>G NP_001070651.1:p.Met168Val
NM_001114382.1:c.502A>G NP_001107854.1:p.Met168Val
NM_001114382.2:c.502A>G NP_001107854.1:p.Met168Val
NM_001114382.3:c.502A>G NP_001107854.1:p.Met168Val
NM_001318827.1:c.391A>G NP_001305756.1:p.Met131Val
NM_001318827.2:c.391A>G NP_001305756.1:p.Met131Val
NM_001318829.1:c.355A>G NP_001305758.1:p.Met119Val
NM_001318829.2:c.355A>G NP_001305758.1:p.Met119Val
NM_001318831.1:c.-1-774A>G NP_001305760.1:n.-1-774A>G
NM_001318831.2:c.-1-774A>G NP_001305760.1:n.-1-774A>G
NM_001318832.1:c.535A>G NP_001305761.1:p.Met179Val
NM_001318832.2:c.535A>G NP_001305761.1:p.Met179Val
NM_001363528.1:c.502A>G NP_001350457.1:p.Met168Val
NM_001363528.2:c.502A>G NP_001350457.1:p.Met168Val
NM_001370404.1:c.502A>G NP_001357333.1:p.Met168Val
NM_001370405.1:c.502A>G NP_001357334.1:p.Met168Val
NM_021055.2:c.502A>G NP_066399.2:p.Met168Val
NM_021055.3:c.502A>G NP_066399.2:p.Met168Val
ENST00000219476.7:c.502A>G ENSP00000219476.3:p.Met168Val
ENST00000350773.8:c.502A>G ENSP00000344383.4:p.Met168Val
ENST00000350773.9:c.502A>G ENSP00000344383.4:p.Met168Val
ENST00000382538.10:c.355A>G ENSP00000371978.6:p.Met119Val
ENST00000401874.6:c.502A>G ENSP00000384468.2:p.Met168Val
ENST00000401874.7:c.502A>G ENSP00000384468.2:p.Met168Val
ENST00000432909.2:c.276A>G
ENST00000432909.3:c.276A>G
ENST00000439117.6:c.226-774A>G ENSP00000406980.2:n.226-774A>G
ENST00000439673.6:c.391A>G ENSP00000399232.2:p.Met131Val
ENST00000461648.3:n.2416A>G
ENST00000568454.5:c.535A>G ENSP00000454487.1:p.Met179Val
ENST00000568454.6:c.535A>G ENSP00000454487.1:p.Met179Val
ENST00000568566.6:c.502A>G ENSP00000455997.2:p.Met168Val
ENST00000568692.1:n.166A>G
ENST00000568692.2:n.1225A>G
ENST00000642206.2:c.547A>G ENSP00000495146.2:p.Met183Val
ENST00000642365.2:c.502A>G ENSP00000495459.2:p.Met168Val
ENST00000642561.1:c.502A>G ENSP00000495099.1:p.Met168Val
ENST00000642797.1:c.502A>G ENSP00000493846.1:p.Met168Val
ENST00000642812.1:n.559A>G
ENST00000642936.1:c.502A>G ENSP00000494514.1:p.Met168Val
ENST00000643088.1:c.502A>G ENSP00000494747.1:p.Met168Val
ENST00000643120.1:n.526A>G
ENST00000643149.1:n.1455A>G
ENST00000643298.1:c.502A>G ENSP00000494393.1:p.Met168Val
ENST00000643745.1:c.502A>G ENSP00000495948.1:p.Met168Val
ENST00000643946.1:c.502A>G ENSP00000495927.1:p.Met168Val
ENST00000644043.1:c.502A>G ENSP00000496262.1:p.Met168Val
ENST00000644135.1:c.502A>G ENSP00000495644.1:p.Met168Val
ENST00000644222.1:n.589A>G
ENST00000644329.1:c.502A>G ENSP00000496611.1:p.Met168Val
ENST00000644335.1:c.502A>G ENSP00000496317.1:p.Met168Val
ENST00000644399.1:c.495A>G
ENST00000644417.1:c.200A>G ENSP00000493912.1:p.Asp67Gly
ENST00000644417.2:c.485A>G ENSP00000493912.2:p.Asp162Gly
ENST00000644665.1:n.619A>G
ENST00000645591.1:n.1473A>G
ENST00000646388.1:c.502A>G ENSP00000495921.1:p.Met168Val
ENST00000646464.2:c.226-558A>G ENSP00000496610.2:n.226-558A>G
ENST00000646823.1:n.890A>G
ENST00000647234.1:n.1203A>G
ENST00000647242.1:n.1170A>G
XM_005255529.3:c.502A>G XP_005255586.2:p.Met168Val
XM_005255531.3:c.502A>G XP_005255588.2:p.Met168Val
XM_005255531.4:c.502A>G XP_005255588.2:p.Met168Val
XM_011522636.1:c.502A>G XP_011520938.1:p.Met168Val
XM_011522636.2:c.502A>G XP_011520938.1:p.Met168Val
XM_011522637.1:c.502A>G XP_011520939.1:p.Met168Val
XM_011522637.2:c.502A>G XP_011520939.1:p.Met168Val
XM_011522638.1:c.391A>G XP_011520940.1:p.Met131Val
XM_011522638.2:c.664A>G XP_011520940.2:p.Met222Val
XM_011522639.1:c.502A>G XP_011520941.1:p.Met168Val
XM_011522639.2:c.502A>G XP_011520941.1:p.Met168Val
XM_011522640.1:c.502A>G XP_011520942.1:p.Met168Val
XM_011522640.2:c.502A>G XP_011520942.1:p.Met168Val
XM_011522641.1:c.391A>G XP_011520943.1:p.Met131Val
XM_017023615.1:c.502A>G XP_016879104.1:p.Met168Val
XM_017023616.1:c.502A>G XP_016879105.1:p.Met168Val
XM_017023617.1:c.664A>G XP_016879106.1:p.Met222Val
XM_017023618.1:c.-930A>G XP_016879107.1:n.-930A>G
XM_024450413.1:c.502A>G XP_024306181.1:p.Met168Val