Canonical Allele Identifier: CA052417
Community Standard Title: NM_000548.5(TSC2):c.4754A>G (p.Lys1585Arg)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086284A>G , CM000678.2:g.2086284A>G GRCh38
NC_000016.9:g.2136285A>G , CM000678.1:g.2136285A>G GRCh37
NC_000016.8:g.2076286A>G NCBI36
NG_005895.1:g.41979A>G , LRG_487:g.41979A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4754A>G MANE Select NP_000539.2:p.Lys1585Arg
ENST00000219476.9:c.4754A>G MANE Select ENSP00000219476.3:p.Lys1585Arg
NM_000548.3:c.4754A>G , LRG_487t1:c.4754A>G NP_000539.2:p.Lys1585Arg
NM_000548.4:c.4754A>G NP_000539.2:p.Lys1585Arg
NM_001077183.1:c.4553A>G NP_001070651.1:p.Lys1518Arg
NM_001077183.2:c.4553A>G NP_001070651.1:p.Lys1518Arg
NM_001077183.3:c.4553A>G NP_001070651.1:p.Lys1518Arg
NM_001114382.1:c.4685A>G NP_001107854.1:p.Lys1562Arg
NM_001114382.2:c.4685A>G NP_001107854.1:p.Lys1562Arg
NM_001114382.3:c.4685A>G NP_001107854.1:p.Lys1562Arg
NM_001318827.1:c.4445A>G NP_001305756.1:p.Lys1482Arg
NM_001318827.2:c.4445A>G NP_001305756.1:p.Lys1482Arg
NM_001318829.1:c.4409A>G NP_001305758.1:p.Lys1470Arg
NM_001318829.2:c.4409A>G NP_001305758.1:p.Lys1470Arg
NM_001318831.1:c.4022A>G NP_001305760.1:p.Lys1341Arg
NM_001318831.2:c.4022A>G NP_001305760.1:p.Lys1341Arg
NM_001318832.1:c.4586A>G NP_001305761.1:p.Lys1529Arg
NM_001318832.2:c.4586A>G NP_001305761.1:p.Lys1529Arg
NM_001363528.1:c.4556A>G NP_001350457.1:p.Lys1519Arg
NM_001363528.2:c.4556A>G NP_001350457.1:p.Lys1519Arg
NM_001370404.1:c.4622A>G NP_001357333.1:p.Lys1541Arg
NM_001370405.1:c.4625A>G NP_001357334.1:p.Lys1542Arg
NM_021055.2:c.4625A>G NP_066399.2:p.Lys1542Arg
NM_021055.3:c.4625A>G NP_066399.2:p.Lys1542Arg
ENST00000219476.7:c.4754A>G ENSP00000219476.3:p.Lys1585Arg
ENST00000350773.8:c.4685A>G ENSP00000344383.4:p.Lys1562Arg
ENST00000350773.9:c.4685A>G ENSP00000344383.4:p.Lys1562Arg
ENST00000382538.10:c.4409A>G ENSP00000371978.6:p.Lys1470Arg
ENST00000401874.6:c.4553A>G ENSP00000384468.2:p.Lys1518Arg
ENST00000401874.7:c.4553A>G ENSP00000384468.2:p.Lys1518Arg
ENST00000439117.6:c.*3921A>G ENSP00000406980.2:n.*3921A>G
ENST00000439673.6:c.4445A>G ENSP00000399232.2:p.Lys1482Arg
ENST00000497886.5:n.2512A>G
ENST00000568454.5:c.4586A>G ENSP00000454487.1:p.Lys1529Arg
ENST00000568454.6:c.4586A>G ENSP00000454487.1:p.Lys1529Arg
ENST00000568566.6:c.*3103A>G ENSP00000455997.2:n.*3103A>G
ENST00000569110.1:c.936A>G
ENST00000569110.2:c.977A>G
ENST00000569930.1:n.1869A>G
ENST00000569930.2:n.2636A>G
ENST00000642206.2:c.4601A>G ENSP00000495146.2:p.Lys1534Arg
ENST00000642365.1:c.3408A>G
ENST00000642365.2:c.4751A>G ENSP00000495459.2:p.Lys1584Arg
ENST00000642561.1:c.4625A>G ENSP00000495099.1:p.Lys1542Arg
ENST00000642728.1:n.936A>G
ENST00000642791.1:n.351A>G
ENST00000642797.1:c.4556A>G ENSP00000493846.1:p.Lys1519Arg
ENST00000642936.1:c.4622A>G ENSP00000494514.1:p.Lys1541Arg
ENST00000643088.1:c.4547A>G ENSP00000494747.1:p.Lys1516Arg
ENST00000643177.1:n.768A>G
ENST00000643426.1:n.2402A>G
ENST00000643946.1:c.4679A>G ENSP00000495927.1:p.Lys1560Arg
ENST00000644043.1:c.4625A>G ENSP00000496262.1:p.Lys1542Arg
ENST00000644278.1:n.236A>G
ENST00000644329.1:c.4553A>G ENSP00000496611.1:p.Lys1518Arg
ENST00000644335.1:c.4550A>G ENSP00000496317.1:p.Lys1517Arg
ENST00000644399.1:c.4675A>G
ENST00000644417.2:c.*5267A>G ENSP00000493912.2:n.*5267A>G
ENST00000645024.1:n.2838A>G
ENST00000646388.1:c.4748A>G ENSP00000495921.1:p.Lys1583Arg
ENST00000646464.2:c.*7503A>G ENSP00000496610.2:n.*7503A>G
ENST00000646634.1:n.3569A>G
ENST00000646674.1:n.2006A>G
ENST00000647042.1:n.1977A>G
ENST00000647180.1:n.1867A>G
XM_005255529.3:c.4625A>G XP_005255586.2:p.Lys1542Arg
XM_005255531.3:c.4556A>G XP_005255588.2:p.Lys1519Arg
XM_005255531.4:c.4556A>G XP_005255588.2:p.Lys1519Arg
XM_011522636.1:c.4808A>G XP_011520938.1:p.Lys1603Arg
XM_011522636.2:c.4808A>G XP_011520938.1:p.Lys1603Arg
XM_011522637.1:c.4805A>G XP_011520939.1:p.Lys1602Arg
XM_011522637.2:c.4805A>G XP_011520939.1:p.Lys1602Arg
XM_011522638.1:c.4697A>G XP_011520940.1:p.Lys1566Arg
XM_011522638.2:c.4970A>G XP_011520940.2:p.Lys1657Arg
XM_011522639.1:c.4679A>G XP_011520941.1:p.Lys1560Arg
XM_011522639.2:c.4679A>G XP_011520941.1:p.Lys1560Arg
XM_011522640.1:c.4676A>G XP_011520942.1:p.Lys1559Arg
XM_011522640.2:c.4676A>G XP_011520942.1:p.Lys1559Arg
XM_011522641.1:c.4445A>G XP_011520943.1:p.Lys1482Arg
XM_017023615.1:c.4751A>G XP_016879104.1:p.Lys1584Arg
XM_017023616.1:c.4622A>G XP_016879105.1:p.Lys1541Arg
XM_017023617.1:c.4718A>G XP_016879106.1:p.Lys1573Arg
XM_017023618.1:c.3464A>G XP_016879107.1:p.Lys1155Arg
XM_024450413.1:c.4553A>G XP_024306181.1:p.Lys1518Arg