Canonical Allele Identifier: CA053878
Community Standard Title: NM_000548.5(TSC2):c.5071A>G (p.Met1691Val)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088050A>G , CM000678.2:g.2088050A>G GRCh38
NC_000016.9:g.2138051A>G , CM000678.1:g.2138051A>G GRCh37
NC_000016.8:g.2078052A>G NCBI36
NG_005895.1:g.43745A>G , LRG_487:g.43745A>G
NG_008617.1:g.55171T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5071A>G MANE Select NP_000539.2:p.Met1691Val
ENST00000219476.9:c.5071A>G MANE Select ENSP00000219476.3:p.Met1691Val
NM_000548.3:c.5071A>G , LRG_487t1:c.5071A>G NP_000539.2:p.Met1691Val
NM_000548.4:c.5071A>G NP_000539.2:p.Met1691Val
NM_001077183.1:c.4870A>G NP_001070651.1:p.Met1624Val
NM_001077183.2:c.4870A>G NP_001070651.1:p.Met1624Val
NM_001077183.3:c.4870A>G NP_001070651.1:p.Met1624Val
NM_001114382.1:c.5002A>G NP_001107854.1:p.Met1668Val
NM_001114382.2:c.5002A>G NP_001107854.1:p.Met1668Val
NM_001114382.3:c.5002A>G NP_001107854.1:p.Met1668Val
NM_001318827.1:c.4762A>G NP_001305756.1:p.Met1588Val
NM_001318827.2:c.4762A>G NP_001305756.1:p.Met1588Val
NM_001318829.1:c.4726A>G NP_001305758.1:p.Met1576Val
NM_001318829.2:c.4726A>G NP_001305758.1:p.Met1576Val
NM_001318831.1:c.4339A>G NP_001305760.1:p.Met1447Val
NM_001318831.2:c.4339A>G NP_001305760.1:p.Met1447Val
NM_001318832.1:c.4903A>G NP_001305761.1:p.Met1635Val
NM_001318832.2:c.4903A>G NP_001305761.1:p.Met1635Val
NM_001363528.1:c.4873A>G NP_001350457.1:p.Met1625Val
NM_001363528.2:c.4873A>G NP_001350457.1:p.Met1625Val
NM_001370404.1:c.4939A>G NP_001357333.1:p.Met1647Val
NM_001370405.1:c.4942A>G NP_001357334.1:p.Met1648Val
NM_021055.2:c.4942A>G NP_066399.2:p.Met1648Val
NM_021055.3:c.4942A>G NP_066399.2:p.Met1648Val
ENST00000219476.7:c.5071A>G ENSP00000219476.3:p.Met1691Val
ENST00000350773.8:c.5002A>G ENSP00000344383.4:p.Met1668Val
ENST00000350773.9:c.5002A>G ENSP00000344383.4:p.Met1668Val
ENST00000382538.10:c.4726A>G ENSP00000371978.6:p.Met1576Val
ENST00000401874.6:c.4870A>G ENSP00000384468.2:p.Met1624Val
ENST00000401874.7:c.4870A>G ENSP00000384468.2:p.Met1624Val
ENST00000439117.6:c.*4238A>G ENSP00000406980.2:n.*4238A>G
ENST00000439673.6:c.4762A>G ENSP00000399232.2:p.Met1588Val
ENST00000497886.5:n.2794A>G
ENST00000568454.5:c.4903A>G ENSP00000454487.1:p.Met1635Val
ENST00000568454.6:c.4903A>G ENSP00000454487.1:p.Met1635Val
ENST00000568566.6:c.*3420A>G ENSP00000455997.2:n.*3420A>G
ENST00000569110.1:c.1253A>G
ENST00000569110.2:c.1294A>G
ENST00000569930.1:n.2186A>G
ENST00000569930.2:n.2953A>G
ENST00000642206.2:c.4918A>G ENSP00000495146.2:p.Met1640Val
ENST00000642365.1:c.3725A>G
ENST00000642365.2:c.5068A>G ENSP00000495459.2:p.Met1690Val
ENST00000642561.1:c.4942A>G ENSP00000495099.1:p.Met1648Val
ENST00000642791.1:n.668A>G
ENST00000642797.1:c.4873A>G ENSP00000493846.1:p.Met1625Val
ENST00000642936.1:c.4939A>G ENSP00000494514.1:p.Met1647Val
ENST00000643088.1:c.4864A>G ENSP00000494747.1:p.Met1622Val
ENST00000643426.1:n.2719A>G
ENST00000643946.1:c.4996A>G ENSP00000495927.1:p.Met1666Val
ENST00000644043.1:c.4942A>G ENSP00000496262.1:p.Met1648Val
ENST00000644329.1:c.4870A>G ENSP00000496611.1:p.Met1624Val
ENST00000644335.1:c.4867A>G ENSP00000496317.1:p.Met1623Val
ENST00000644399.1:c.4992A>G
ENST00000644417.2:c.*5584A>G ENSP00000493912.2:n.*5584A>G
ENST00000645024.1:n.3155A>G
ENST00000646388.1:c.5065A>G ENSP00000495921.1:p.Met1689Val
ENST00000646464.2:c.*7820A>G ENSP00000496610.2:n.*7820A>G
ENST00000646634.1:n.3886A>G
ENST00000646674.1:n.2323A>G
ENST00000647042.1:n.2294A>G
ENST00000647180.1:n.2184A>G
XM_005255529.3:c.4942A>G XP_005255586.2:p.Met1648Val
XM_005255531.3:c.4873A>G XP_005255588.2:p.Met1625Val
XM_005255531.4:c.4873A>G XP_005255588.2:p.Met1625Val
XM_011522636.1:c.5125A>G XP_011520938.1:p.Met1709Val
XM_011522636.2:c.5125A>G XP_011520938.1:p.Met1709Val
XM_011522637.1:c.5122A>G XP_011520939.1:p.Met1708Val
XM_011522637.2:c.5122A>G XP_011520939.1:p.Met1708Val
XM_011522638.1:c.5014A>G XP_011520940.1:p.Met1672Val
XM_011522638.2:c.5287A>G XP_011520940.2:p.Met1763Val
XM_011522639.1:c.4996A>G XP_011520941.1:p.Met1666Val
XM_011522639.2:c.4996A>G XP_011520941.1:p.Met1666Val
XM_011522640.1:c.4993A>G XP_011520942.1:p.Met1665Val
XM_011522640.2:c.4993A>G XP_011520942.1:p.Met1665Val
XM_011522641.1:c.4762A>G XP_011520943.1:p.Met1588Val
XM_017023615.1:c.5068A>G XP_016879104.1:p.Met1690Val
XM_017023616.1:c.4939A>G XP_016879105.1:p.Met1647Val
XM_017023617.1:c.5035A>G XP_016879106.1:p.Met1679Val
XM_017023618.1:c.3781A>G XP_016879107.1:p.Met1261Val
XM_024450413.1:c.4870A>G XP_024306181.1:p.Met1624Val