Canonical Allele Identifier: CA394308497
Community Standard Title: NM_000548.5(TSC2):c.4909A>G (p.Lys1637Glu)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086791A>G , CM000678.2:g.2086791A>G GRCh38
NC_000016.9:g.2136792A>G , CM000678.1:g.2136792A>G GRCh37
NC_000016.8:g.2076793A>G NCBI36
NG_005895.1:g.42486A>G , LRG_487:g.42486A>G
NG_008617.1:g.56430T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4909A>G MANE Select NP_000539.2:p.Lys1637Glu
ENST00000219476.9:c.4909A>G MANE Select ENSP00000219476.3:p.Lys1637Glu
NM_000548.3:c.4909A>G , LRG_487t1:c.4909A>G NP_000539.2:p.Lys1637Glu
NM_000548.4:c.4909A>G NP_000539.2:p.Lys1637Glu
NM_001077183.1:c.4708A>G NP_001070651.1:p.Lys1570Glu
NM_001077183.2:c.4708A>G NP_001070651.1:p.Lys1570Glu
NM_001077183.3:c.4708A>G NP_001070651.1:p.Lys1570Glu
NM_001114382.1:c.4840A>G NP_001107854.1:p.Lys1614Glu
NM_001114382.2:c.4840A>G NP_001107854.1:p.Lys1614Glu
NM_001114382.3:c.4840A>G NP_001107854.1:p.Lys1614Glu
NM_001318827.1:c.4600A>G NP_001305756.1:p.Lys1534Glu
NM_001318827.2:c.4600A>G NP_001305756.1:p.Lys1534Glu
NM_001318829.1:c.4564A>G NP_001305758.1:p.Lys1522Glu
NM_001318829.2:c.4564A>G NP_001305758.1:p.Lys1522Glu
NM_001318831.1:c.4177A>G NP_001305760.1:p.Lys1393Glu
NM_001318831.2:c.4177A>G NP_001305760.1:p.Lys1393Glu
NM_001318832.1:c.4741A>G NP_001305761.1:p.Lys1581Glu
NM_001318832.2:c.4741A>G NP_001305761.1:p.Lys1581Glu
NM_001363528.1:c.4711A>G NP_001350457.1:p.Lys1571Glu
NM_001363528.2:c.4711A>G NP_001350457.1:p.Lys1571Glu
NM_001370404.1:c.4777A>G NP_001357333.1:p.Lys1593Glu
NM_001370405.1:c.4780A>G NP_001357334.1:p.Lys1594Glu
NM_021055.2:c.4780A>G NP_066399.2:p.Lys1594Glu
NM_021055.3:c.4780A>G NP_066399.2:p.Lys1594Glu
ENST00000219476.7:c.4909A>G ENSP00000219476.3:p.Lys1637Glu
ENST00000350773.8:c.4840A>G ENSP00000344383.4:p.Lys1614Glu
ENST00000350773.9:c.4840A>G ENSP00000344383.4:p.Lys1614Glu
ENST00000382538.10:c.4564A>G ENSP00000371978.6:p.Lys1522Glu
ENST00000401874.6:c.4708A>G ENSP00000384468.2:p.Lys1570Glu
ENST00000401874.7:c.4708A>G ENSP00000384468.2:p.Lys1570Glu
ENST00000439117.6:c.*4076A>G ENSP00000406980.2:n.*4076A>G
ENST00000439673.6:c.4600A>G ENSP00000399232.2:p.Lys1534Glu
ENST00000497886.5:n.2632A>G
ENST00000568454.5:c.4741A>G ENSP00000454487.1:p.Lys1581Glu
ENST00000568454.6:c.4741A>G ENSP00000454487.1:p.Lys1581Glu
ENST00000568566.6:c.*3258A>G ENSP00000455997.2:n.*3258A>G
ENST00000569110.1:c.1091A>G
ENST00000569110.2:c.1132A>G
ENST00000569930.1:n.2024A>G
ENST00000569930.2:n.2791A>G
ENST00000642206.2:c.4756A>G ENSP00000495146.2:p.Lys1586Glu
ENST00000642365.1:c.3563A>G
ENST00000642365.2:c.4906A>G ENSP00000495459.2:p.Lys1636Glu
ENST00000642561.1:c.4780A>G ENSP00000495099.1:p.Lys1594Glu
ENST00000642728.1:n.1091A>G
ENST00000642791.1:n.506A>G
ENST00000642797.1:c.4711A>G ENSP00000493846.1:p.Lys1571Glu
ENST00000642936.1:c.4777A>G ENSP00000494514.1:p.Lys1593Glu
ENST00000643088.1:c.4702A>G ENSP00000494747.1:p.Lys1568Glu
ENST00000643177.1:n.923A>G
ENST00000643426.1:n.2557A>G
ENST00000643946.1:c.4834A>G ENSP00000495927.1:p.Lys1612Glu
ENST00000644043.1:c.4780A>G ENSP00000496262.1:p.Lys1594Glu
ENST00000644278.1:n.391A>G
ENST00000644329.1:c.4708A>G ENSP00000496611.1:p.Lys1570Glu
ENST00000644335.1:c.4705A>G ENSP00000496317.1:p.Lys1569Glu
ENST00000644399.1:c.4830A>G
ENST00000644417.2:c.*5422A>G ENSP00000493912.2:n.*5422A>G
ENST00000645024.1:n.2993A>G
ENST00000646388.1:c.4903A>G ENSP00000495921.1:p.Lys1635Glu
ENST00000646464.2:c.*7658A>G ENSP00000496610.2:n.*7658A>G
ENST00000646557.1:n.70A>G
ENST00000646634.1:n.3724A>G
ENST00000646674.1:n.2161A>G
ENST00000647042.1:n.2132A>G
ENST00000647180.1:n.2022A>G
XM_005255529.3:c.4780A>G XP_005255586.2:p.Lys1594Glu
XM_005255531.3:c.4711A>G XP_005255588.2:p.Lys1571Glu
XM_005255531.4:c.4711A>G XP_005255588.2:p.Lys1571Glu
XM_011522636.1:c.4963A>G XP_011520938.1:p.Lys1655Glu
XM_011522636.2:c.4963A>G XP_011520938.1:p.Lys1655Glu
XM_011522637.1:c.4960A>G XP_011520939.1:p.Lys1654Glu
XM_011522637.2:c.4960A>G XP_011520939.1:p.Lys1654Glu
XM_011522638.1:c.4852A>G XP_011520940.1:p.Lys1618Glu
XM_011522638.2:c.5125A>G XP_011520940.2:p.Lys1709Glu
XM_011522639.1:c.4834A>G XP_011520941.1:p.Lys1612Glu
XM_011522639.2:c.4834A>G XP_011520941.1:p.Lys1612Glu
XM_011522640.1:c.4831A>G XP_011520942.1:p.Lys1611Glu
XM_011522640.2:c.4831A>G XP_011520942.1:p.Lys1611Glu
XM_011522641.1:c.4600A>G XP_011520943.1:p.Lys1534Glu
XM_017023615.1:c.4906A>G XP_016879104.1:p.Lys1636Glu
XM_017023616.1:c.4777A>G XP_016879105.1:p.Lys1593Glu
XM_017023617.1:c.4873A>G XP_016879106.1:p.Lys1625Glu
XM_017023618.1:c.3619A>G XP_016879107.1:p.Lys1207Glu
XM_024450413.1:c.4708A>G XP_024306181.1:p.Lys1570Glu