Canonical Allele Identifier: CA394311538
Community Standard Title: NM_000548.5(TSC2):c.5048T>G (p.Val1683Gly)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2087921T>G , CM000678.2:g.2087921T>G GRCh38
NC_000016.9:g.2137922T>G , CM000678.1:g.2137922T>G GRCh37
NC_000016.8:g.2077923T>G NCBI36
NG_005895.1:g.43616T>G , LRG_487:g.43616T>G
NG_008617.1:g.55300A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5048T>G MANE Select NP_000539.2:p.Val1683Gly
ENST00000219476.9:c.5048T>G MANE Select ENSP00000219476.3:p.Val1683Gly
NM_000548.3:c.5048T>G , LRG_487t1:c.5048T>G NP_000539.2:p.Val1683Gly
NM_000548.4:c.5048T>G NP_000539.2:p.Val1683Gly
NM_001077183.1:c.4847T>G NP_001070651.1:p.Val1616Gly
NM_001077183.2:c.4847T>G NP_001070651.1:p.Val1616Gly
NM_001077183.3:c.4847T>G NP_001070651.1:p.Val1616Gly
NM_001114382.1:c.4979T>G NP_001107854.1:p.Val1660Gly
NM_001114382.2:c.4979T>G NP_001107854.1:p.Val1660Gly
NM_001114382.3:c.4979T>G NP_001107854.1:p.Val1660Gly
NM_001318827.1:c.4739T>G NP_001305756.1:p.Val1580Gly
NM_001318827.2:c.4739T>G NP_001305756.1:p.Val1580Gly
NM_001318829.1:c.4703T>G NP_001305758.1:p.Val1568Gly
NM_001318829.2:c.4703T>G NP_001305758.1:p.Val1568Gly
NM_001318831.1:c.4316T>G NP_001305760.1:p.Val1439Gly
NM_001318831.2:c.4316T>G NP_001305760.1:p.Val1439Gly
NM_001318832.1:c.4880T>G NP_001305761.1:p.Val1627Gly
NM_001318832.2:c.4880T>G NP_001305761.1:p.Val1627Gly
NM_001363528.1:c.4850T>G NP_001350457.1:p.Val1617Gly
NM_001363528.2:c.4850T>G NP_001350457.1:p.Val1617Gly
NM_001370404.1:c.4916T>G NP_001357333.1:p.Val1639Gly
NM_001370405.1:c.4919T>G NP_001357334.1:p.Val1640Gly
NM_021055.2:c.4919T>G NP_066399.2:p.Val1640Gly
NM_021055.3:c.4919T>G NP_066399.2:p.Val1640Gly
ENST00000219476.7:c.5048T>G ENSP00000219476.3:p.Val1683Gly
ENST00000350773.8:c.4979T>G ENSP00000344383.4:p.Val1660Gly
ENST00000350773.9:c.4979T>G ENSP00000344383.4:p.Val1660Gly
ENST00000382538.10:c.4703T>G ENSP00000371978.6:p.Val1568Gly
ENST00000401874.6:c.4847T>G ENSP00000384468.2:p.Val1616Gly
ENST00000401874.7:c.4847T>G ENSP00000384468.2:p.Val1616Gly
ENST00000439117.6:c.*4215T>G ENSP00000406980.2:n.*4215T>G
ENST00000439673.6:c.4739T>G ENSP00000399232.2:p.Val1580Gly
ENST00000497886.5:n.2771T>G
ENST00000568454.5:c.4880T>G ENSP00000454487.1:p.Val1627Gly
ENST00000568454.6:c.4880T>G ENSP00000454487.1:p.Val1627Gly
ENST00000568566.6:c.*3397T>G ENSP00000455997.2:n.*3397T>G
ENST00000569110.1:c.1230T>G
ENST00000569110.2:c.1271T>G
ENST00000569930.1:n.2163T>G
ENST00000569930.2:n.2930T>G
ENST00000642206.2:c.4895T>G ENSP00000495146.2:p.Val1632Gly
ENST00000642365.1:c.3702T>G
ENST00000642365.2:c.5045T>G ENSP00000495459.2:p.Val1682Gly
ENST00000642561.1:c.4919T>G ENSP00000495099.1:p.Val1640Gly
ENST00000642791.1:n.645T>G
ENST00000642797.1:c.4850T>G ENSP00000493846.1:p.Val1617Gly
ENST00000642936.1:c.4916T>G ENSP00000494514.1:p.Val1639Gly
ENST00000643088.1:c.4841T>G ENSP00000494747.1:p.Val1614Gly
ENST00000643177.1:n.1062T>G
ENST00000643426.1:n.2696T>G
ENST00000643946.1:c.4973T>G ENSP00000495927.1:p.Val1658Gly
ENST00000644043.1:c.4919T>G ENSP00000496262.1:p.Val1640Gly
ENST00000644278.1:n.530T>G
ENST00000644329.1:c.4847T>G ENSP00000496611.1:p.Val1616Gly
ENST00000644335.1:c.4844T>G ENSP00000496317.1:p.Val1615Gly
ENST00000644399.1:c.4969T>G
ENST00000644417.2:c.*5561T>G ENSP00000493912.2:n.*5561T>G
ENST00000645024.1:n.3132T>G
ENST00000646388.1:c.5042T>G ENSP00000495921.1:p.Val1681Gly
ENST00000646464.2:c.*7797T>G ENSP00000496610.2:n.*7797T>G
ENST00000646634.1:n.3863T>G
ENST00000646674.1:n.2300T>G
ENST00000647042.1:n.2271T>G
ENST00000647180.1:n.2161T>G
XM_005255529.3:c.4919T>G XP_005255586.2:p.Val1640Gly
XM_005255531.3:c.4850T>G XP_005255588.2:p.Val1617Gly
XM_005255531.4:c.4850T>G XP_005255588.2:p.Val1617Gly
XM_011522636.1:c.5102T>G XP_011520938.1:p.Val1701Gly
XM_011522636.2:c.5102T>G XP_011520938.1:p.Val1701Gly
XM_011522637.1:c.5099T>G XP_011520939.1:p.Val1700Gly
XM_011522637.2:c.5099T>G XP_011520939.1:p.Val1700Gly
XM_011522638.1:c.4991T>G XP_011520940.1:p.Val1664Gly
XM_011522638.2:c.5264T>G XP_011520940.2:p.Val1755Gly
XM_011522639.1:c.4973T>G XP_011520941.1:p.Val1658Gly
XM_011522639.2:c.4973T>G XP_011520941.1:p.Val1658Gly
XM_011522640.1:c.4970T>G XP_011520942.1:p.Val1657Gly
XM_011522640.2:c.4970T>G XP_011520942.1:p.Val1657Gly
XM_011522641.1:c.4739T>G XP_011520943.1:p.Val1580Gly
XM_017023615.1:c.5045T>G XP_016879104.1:p.Val1682Gly
XM_017023616.1:c.4916T>G XP_016879105.1:p.Val1639Gly
XM_017023617.1:c.5012T>G XP_016879106.1:p.Val1671Gly
XM_017023618.1:c.3758T>G XP_016879107.1:p.Val1253Gly
XM_024450413.1:c.4847T>G XP_024306181.1:p.Val1616Gly