Canonical Allele Identifier: CA394307417
Community Standard Title: NM_000548.5(TSC2):c.4714A>G (p.Thr1572Ala)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086244A>G , CM000678.2:g.2086244A>G GRCh38
NC_000016.9:g.2136245A>G , CM000678.1:g.2136245A>G GRCh37
NC_000016.8:g.2076246A>G NCBI36
NG_005895.1:g.41939A>G , LRG_487:g.41939A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4714A>G MANE Select NP_000539.2:p.Thr1572Ala
ENST00000219476.9:c.4714A>G MANE Select ENSP00000219476.3:p.Thr1572Ala
NM_000548.3:c.4714A>G , LRG_487t1:c.4714A>G NP_000539.2:p.Thr1572Ala
NM_000548.4:c.4714A>G NP_000539.2:p.Thr1572Ala
NM_001077183.1:c.4513A>G NP_001070651.1:p.Thr1505Ala
NM_001077183.2:c.4513A>G NP_001070651.1:p.Thr1505Ala
NM_001077183.3:c.4513A>G NP_001070651.1:p.Thr1505Ala
NM_001114382.1:c.4645A>G NP_001107854.1:p.Thr1549Ala
NM_001114382.2:c.4645A>G NP_001107854.1:p.Thr1549Ala
NM_001114382.3:c.4645A>G NP_001107854.1:p.Thr1549Ala
NM_001318827.1:c.4405A>G NP_001305756.1:p.Thr1469Ala
NM_001318827.2:c.4405A>G NP_001305756.1:p.Thr1469Ala
NM_001318829.1:c.4369A>G NP_001305758.1:p.Thr1457Ala
NM_001318829.2:c.4369A>G NP_001305758.1:p.Thr1457Ala
NM_001318831.1:c.3982A>G NP_001305760.1:p.Thr1328Ala
NM_001318831.2:c.3982A>G NP_001305760.1:p.Thr1328Ala
NM_001318832.1:c.4546A>G NP_001305761.1:p.Thr1516Ala
NM_001318832.2:c.4546A>G NP_001305761.1:p.Thr1516Ala
NM_001363528.1:c.4516A>G NP_001350457.1:p.Thr1506Ala
NM_001363528.2:c.4516A>G NP_001350457.1:p.Thr1506Ala
NM_001370404.1:c.4582A>G NP_001357333.1:p.Thr1528Ala
NM_001370405.1:c.4585A>G NP_001357334.1:p.Thr1529Ala
NM_021055.2:c.4585A>G NP_066399.2:p.Thr1529Ala
NM_021055.3:c.4585A>G NP_066399.2:p.Thr1529Ala
ENST00000219476.7:c.4714A>G ENSP00000219476.3:p.Thr1572Ala
ENST00000350773.8:c.4645A>G ENSP00000344383.4:p.Thr1549Ala
ENST00000350773.9:c.4645A>G ENSP00000344383.4:p.Thr1549Ala
ENST00000382538.10:c.4369A>G ENSP00000371978.6:p.Thr1457Ala
ENST00000401874.6:c.4513A>G ENSP00000384468.2:p.Thr1505Ala
ENST00000401874.7:c.4513A>G ENSP00000384468.2:p.Thr1505Ala
ENST00000439117.6:c.*3881A>G ENSP00000406980.2:n.*3881A>G
ENST00000439673.6:c.4405A>G ENSP00000399232.2:p.Thr1469Ala
ENST00000497886.5:n.2472A>G
ENST00000568454.5:c.4546A>G ENSP00000454487.1:p.Thr1516Ala
ENST00000568454.6:c.4546A>G ENSP00000454487.1:p.Thr1516Ala
ENST00000568566.6:c.*3063A>G ENSP00000455997.2:n.*3063A>G
ENST00000569110.1:c.896A>G
ENST00000569110.2:c.937A>G
ENST00000569930.1:n.1829A>G
ENST00000569930.2:n.2596A>G
ENST00000642206.2:c.4561A>G ENSP00000495146.2:p.Thr1521Ala
ENST00000642365.1:c.3368A>G
ENST00000642365.2:c.4711A>G ENSP00000495459.2:p.Thr1571Ala
ENST00000642561.1:c.4585A>G ENSP00000495099.1:p.Thr1529Ala
ENST00000642728.1:n.896A>G
ENST00000642791.1:n.311A>G
ENST00000642797.1:c.4516A>G ENSP00000493846.1:p.Thr1506Ala
ENST00000642936.1:c.4582A>G ENSP00000494514.1:p.Thr1528Ala
ENST00000643088.1:c.4507A>G ENSP00000494747.1:p.Thr1503Ala
ENST00000643177.1:n.728A>G
ENST00000643426.1:n.2362A>G
ENST00000643946.1:c.4639A>G ENSP00000495927.1:p.Thr1547Ala
ENST00000644043.1:c.4585A>G ENSP00000496262.1:p.Thr1529Ala
ENST00000644278.1:n.196A>G
ENST00000644329.1:c.4513A>G ENSP00000496611.1:p.Thr1505Ala
ENST00000644335.1:c.4510A>G ENSP00000496317.1:p.Thr1504Ala
ENST00000644399.1:c.4635A>G
ENST00000644417.2:c.*5227A>G ENSP00000493912.2:n.*5227A>G
ENST00000645024.1:n.2798A>G
ENST00000646388.1:c.4708A>G ENSP00000495921.1:p.Thr1570Ala
ENST00000646464.2:c.*7463A>G ENSP00000496610.2:n.*7463A>G
ENST00000646634.1:n.3529A>G
ENST00000646674.1:n.1966A>G
ENST00000647042.1:n.1937A>G
ENST00000647180.1:n.1827A>G
XM_005255529.3:c.4585A>G XP_005255586.2:p.Thr1529Ala
XM_005255531.3:c.4516A>G XP_005255588.2:p.Thr1506Ala
XM_005255531.4:c.4516A>G XP_005255588.2:p.Thr1506Ala
XM_011522636.1:c.4768A>G XP_011520938.1:p.Thr1590Ala
XM_011522636.2:c.4768A>G XP_011520938.1:p.Thr1590Ala
XM_011522637.1:c.4765A>G XP_011520939.1:p.Thr1589Ala
XM_011522637.2:c.4765A>G XP_011520939.1:p.Thr1589Ala
XM_011522638.1:c.4657A>G XP_011520940.1:p.Thr1553Ala
XM_011522638.2:c.4930A>G XP_011520940.2:p.Thr1644Ala
XM_011522639.1:c.4639A>G XP_011520941.1:p.Thr1547Ala
XM_011522639.2:c.4639A>G XP_011520941.1:p.Thr1547Ala
XM_011522640.1:c.4636A>G XP_011520942.1:p.Thr1546Ala
XM_011522640.2:c.4636A>G XP_011520942.1:p.Thr1546Ala
XM_011522641.1:c.4405A>G XP_011520943.1:p.Thr1469Ala
XM_017023615.1:c.4711A>G XP_016879104.1:p.Thr1571Ala
XM_017023616.1:c.4582A>G XP_016879105.1:p.Thr1528Ala
XM_017023617.1:c.4678A>G XP_016879106.1:p.Thr1560Ala
XM_017023618.1:c.3424A>G XP_016879107.1:p.Thr1142Ala
XM_024450413.1:c.4513A>G XP_024306181.1:p.Thr1505Ala