Canonical Allele Identifier: CA021305
Community Standard Title: NM_000548.5(TSC2):c.4928A>G (p.Asn1643Ser)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086810A>G , CM000678.2:g.2086810A>G GRCh38
NC_000016.9:g.2136811A>G , CM000678.1:g.2136811A>G GRCh37
NC_000016.8:g.2076812A>G NCBI36
NG_005895.1:g.42505A>G , LRG_487:g.42505A>G
NG_008617.1:g.56411T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4928A>G MANE Select NP_000539.2:p.Asn1643Ser
ENST00000219476.9:c.4928A>G MANE Select ENSP00000219476.3:p.Asn1643Ser
NM_000548.3:c.4928A>G , LRG_487t1:c.4928A>G NP_000539.2:p.Asn1643Ser
NM_000548.4:c.4928A>G NP_000539.2:p.Asn1643Ser
NM_001077183.1:c.4727A>G NP_001070651.1:p.Asn1576Ser
NM_001077183.2:c.4727A>G NP_001070651.1:p.Asn1576Ser
NM_001077183.3:c.4727A>G NP_001070651.1:p.Asn1576Ser
NM_001114382.1:c.4859A>G NP_001107854.1:p.Asn1620Ser
NM_001114382.2:c.4859A>G NP_001107854.1:p.Asn1620Ser
NM_001114382.3:c.4859A>G NP_001107854.1:p.Asn1620Ser
NM_001318827.1:c.4619A>G NP_001305756.1:p.Asn1540Ser
NM_001318827.2:c.4619A>G NP_001305756.1:p.Asn1540Ser
NM_001318829.1:c.4583A>G NP_001305758.1:p.Asn1528Ser
NM_001318829.2:c.4583A>G NP_001305758.1:p.Asn1528Ser
NM_001318831.1:c.4196A>G NP_001305760.1:p.Asn1399Ser
NM_001318831.2:c.4196A>G NP_001305760.1:p.Asn1399Ser
NM_001318832.1:c.4760A>G NP_001305761.1:p.Asn1587Ser
NM_001318832.2:c.4760A>G NP_001305761.1:p.Asn1587Ser
NM_001363528.1:c.4730A>G NP_001350457.1:p.Asn1577Ser
NM_001363528.2:c.4730A>G NP_001350457.1:p.Asn1577Ser
NM_001370404.1:c.4796A>G NP_001357333.1:p.Asn1599Ser
NM_001370405.1:c.4799A>G NP_001357334.1:p.Asn1600Ser
NM_021055.2:c.4799A>G NP_066399.2:p.Asn1600Ser
NM_021055.3:c.4799A>G NP_066399.2:p.Asn1600Ser
ENST00000219476.7:c.4928A>G ENSP00000219476.3:p.Asn1643Ser
ENST00000350773.8:c.4859A>G ENSP00000344383.4:p.Asn1620Ser
ENST00000350773.9:c.4859A>G ENSP00000344383.4:p.Asn1620Ser
ENST00000382538.10:c.4583A>G ENSP00000371978.6:p.Asn1528Ser
ENST00000401874.6:c.4727A>G ENSP00000384468.2:p.Asn1576Ser
ENST00000401874.7:c.4727A>G ENSP00000384468.2:p.Asn1576Ser
ENST00000439117.6:c.*4095A>G ENSP00000406980.2:n.*4095A>G
ENST00000439673.6:c.4619A>G ENSP00000399232.2:p.Asn1540Ser
ENST00000497886.5:n.2651A>G
ENST00000568454.5:c.4760A>G ENSP00000454487.1:p.Asn1587Ser
ENST00000568454.6:c.4760A>G ENSP00000454487.1:p.Asn1587Ser
ENST00000568566.6:c.*3277A>G ENSP00000455997.2:n.*3277A>G
ENST00000569110.1:c.1110A>G
ENST00000569110.2:c.1151A>G
ENST00000569930.1:n.2043A>G
ENST00000569930.2:n.2810A>G
ENST00000642206.2:c.4775A>G ENSP00000495146.2:p.Asn1592Ser
ENST00000642365.1:c.3582A>G
ENST00000642365.2:c.4925A>G ENSP00000495459.2:p.Asn1642Ser
ENST00000642561.1:c.4799A>G ENSP00000495099.1:p.Asn1600Ser
ENST00000642728.1:n.1110A>G
ENST00000642791.1:n.525A>G
ENST00000642797.1:c.4730A>G ENSP00000493846.1:p.Asn1577Ser
ENST00000642936.1:c.4796A>G ENSP00000494514.1:p.Asn1599Ser
ENST00000643088.1:c.4721A>G ENSP00000494747.1:p.Asn1574Ser
ENST00000643177.1:n.942A>G
ENST00000643426.1:n.2576A>G
ENST00000643946.1:c.4853A>G ENSP00000495927.1:p.Asn1618Ser
ENST00000644043.1:c.4799A>G ENSP00000496262.1:p.Asn1600Ser
ENST00000644278.1:n.410A>G
ENST00000644329.1:c.4727A>G ENSP00000496611.1:p.Asn1576Ser
ENST00000644335.1:c.4724A>G ENSP00000496317.1:p.Asn1575Ser
ENST00000644399.1:c.4849A>G
ENST00000644417.2:c.*5441A>G ENSP00000493912.2:n.*5441A>G
ENST00000645024.1:n.3012A>G
ENST00000646388.1:c.4922A>G ENSP00000495921.1:p.Asn1641Ser
ENST00000646464.2:c.*7677A>G ENSP00000496610.2:n.*7677A>G
ENST00000646557.1:n.89A>G
ENST00000646634.1:n.3743A>G
ENST00000646674.1:n.2180A>G
ENST00000647042.1:n.2151A>G
ENST00000647180.1:n.2041A>G
XM_005255529.3:c.4799A>G XP_005255586.2:p.Asn1600Ser
XM_005255531.3:c.4730A>G XP_005255588.2:p.Asn1577Ser
XM_005255531.4:c.4730A>G XP_005255588.2:p.Asn1577Ser
XM_011522636.1:c.4982A>G XP_011520938.1:p.Asn1661Ser
XM_011522636.2:c.4982A>G XP_011520938.1:p.Asn1661Ser
XM_011522637.1:c.4979A>G XP_011520939.1:p.Asn1660Ser
XM_011522637.2:c.4979A>G XP_011520939.1:p.Asn1660Ser
XM_011522638.1:c.4871A>G XP_011520940.1:p.Asn1624Ser
XM_011522638.2:c.5144A>G XP_011520940.2:p.Asn1715Ser
XM_011522639.1:c.4853A>G XP_011520941.1:p.Asn1618Ser
XM_011522639.2:c.4853A>G XP_011520941.1:p.Asn1618Ser
XM_011522640.1:c.4850A>G XP_011520942.1:p.Asn1617Ser
XM_011522640.2:c.4850A>G XP_011520942.1:p.Asn1617Ser
XM_011522641.1:c.4619A>G XP_011520943.1:p.Asn1540Ser
XM_017023615.1:c.4925A>G XP_016879104.1:p.Asn1642Ser
XM_017023616.1:c.4796A>G XP_016879105.1:p.Asn1599Ser
XM_017023617.1:c.4892A>G XP_016879106.1:p.Asn1631Ser
XM_017023618.1:c.3638A>G XP_016879107.1:p.Asn1213Ser
XM_024450413.1:c.4727A>G XP_024306181.1:p.Asn1576Ser