Canonical Allele Identifier: CA394302120
Community Standard Title: NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084640A>G , CM000678.2:g.2084640A>G GRCh38
NC_000016.9:g.2134641A>G , CM000678.1:g.2134641A>G GRCh37
NC_000016.8:g.2074642A>G NCBI36
NG_005895.1:g.40335A>G , LRG_487:g.40335A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4418A>G MANE Select NP_000539.2:p.Lys1473Arg
ENST00000219476.9:c.4418A>G MANE Select ENSP00000219476.3:p.Lys1473Arg
NM_000548.3:c.4418A>G , LRG_487t1:c.4418A>G NP_000539.2:p.Lys1473Arg
NM_000548.4:c.4418A>G NP_000539.2:p.Lys1473Arg
NM_001077183.1:c.4217A>G NP_001070651.1:p.Lys1406Arg
NM_001077183.2:c.4217A>G NP_001070651.1:p.Lys1406Arg
NM_001077183.3:c.4217A>G NP_001070651.1:p.Lys1406Arg
NM_001114382.1:c.4349A>G NP_001107854.1:p.Lys1450Arg
NM_001114382.2:c.4349A>G NP_001107854.1:p.Lys1450Arg
NM_001114382.3:c.4349A>G NP_001107854.1:p.Lys1450Arg
NM_001318827.1:c.4109A>G NP_001305756.1:p.Lys1370Arg
NM_001318827.2:c.4109A>G NP_001305756.1:p.Lys1370Arg
NM_001318829.1:c.4073A>G NP_001305758.1:p.Lys1358Arg
NM_001318829.2:c.4073A>G NP_001305758.1:p.Lys1358Arg
NM_001318831.1:c.3686A>G NP_001305760.1:p.Lys1229Arg
NM_001318831.2:c.3686A>G NP_001305760.1:p.Lys1229Arg
NM_001318832.1:c.4250A>G NP_001305761.1:p.Lys1417Arg
NM_001318832.2:c.4250A>G NP_001305761.1:p.Lys1417Arg
NM_001363528.1:c.4220A>G NP_001350457.1:p.Lys1407Arg
NM_001363528.2:c.4220A>G NP_001350457.1:p.Lys1407Arg
NM_001370404.1:c.4286A>G NP_001357333.1:p.Lys1429Arg
NM_001370405.1:c.4289A>G NP_001357334.1:p.Lys1430Arg
NM_021055.2:c.4289A>G NP_066399.2:p.Lys1430Arg
NM_021055.3:c.4289A>G NP_066399.2:p.Lys1430Arg
ENST00000219476.7:c.4418A>G ENSP00000219476.3:p.Lys1473Arg
ENST00000350773.8:c.4349A>G ENSP00000344383.4:p.Lys1450Arg
ENST00000350773.9:c.4349A>G ENSP00000344383.4:p.Lys1450Arg
ENST00000382538.10:c.4073A>G ENSP00000371978.6:p.Lys1358Arg
ENST00000401874.6:c.4217A>G ENSP00000384468.2:p.Lys1406Arg
ENST00000401874.7:c.4217A>G ENSP00000384468.2:p.Lys1406Arg
ENST00000439117.6:c.*3585A>G ENSP00000406980.2:n.*3585A>G
ENST00000439673.6:c.4109A>G ENSP00000399232.2:p.Lys1370Arg
ENST00000497886.5:n.2176A>G
ENST00000568454.5:c.4250A>G ENSP00000454487.1:p.Lys1417Arg
ENST00000568454.6:c.4250A>G ENSP00000454487.1:p.Lys1417Arg
ENST00000568566.6:c.*2767A>G ENSP00000455997.2:n.*2767A>G
ENST00000569110.1:c.600A>G
ENST00000569110.2:c.654A>G
ENST00000569930.1:n.1533A>G
ENST00000569930.2:n.2300A>G
ENST00000642206.2:c.4265A>G ENSP00000495146.2:p.Lys1422Arg
ENST00000642365.1:c.3072A>G
ENST00000642365.2:c.4415A>G ENSP00000495459.2:p.Lys1472Arg
ENST00000642561.1:c.4289A>G ENSP00000495099.1:p.Lys1430Arg
ENST00000642728.1:n.600A>G
ENST00000642797.1:c.4220A>G ENSP00000493846.1:p.Lys1407Arg
ENST00000642936.1:c.4286A>G ENSP00000494514.1:p.Lys1429Arg
ENST00000643088.1:c.4217A>G ENSP00000494747.1:p.Lys1406Arg
ENST00000643177.1:n.432A>G
ENST00000643426.1:n.2066A>G
ENST00000643946.1:c.4349A>G ENSP00000495927.1:p.Lys1450Arg
ENST00000644043.1:c.4289A>G ENSP00000496262.1:p.Lys1430Arg
ENST00000644329.1:c.4217A>G ENSP00000496611.1:p.Lys1406Arg
ENST00000644335.1:c.4220A>G ENSP00000496317.1:p.Lys1407Arg
ENST00000644399.1:c.4339A>G
ENST00000644417.2:c.*4798A>G ENSP00000493912.2:n.*4798A>G
ENST00000645024.1:n.2502A>G
ENST00000646388.1:c.4418A>G ENSP00000495921.1:p.Lys1473Arg
ENST00000646464.2:c.*7167A>G ENSP00000496610.2:n.*7167A>G
ENST00000646634.1:n.3233A>G
ENST00000646674.1:n.1670A>G
ENST00000647042.1:n.1641A>G
ENST00000647180.1:n.1531A>G
XM_005255529.3:c.4289A>G XP_005255586.2:p.Lys1430Arg
XM_005255531.3:c.4220A>G XP_005255588.2:p.Lys1407Arg
XM_005255531.4:c.4220A>G XP_005255588.2:p.Lys1407Arg
XM_011522636.1:c.4472A>G XP_011520938.1:p.Lys1491Arg
XM_011522636.2:c.4472A>G XP_011520938.1:p.Lys1491Arg
XM_011522637.1:c.4469A>G XP_011520939.1:p.Lys1490Arg
XM_011522637.2:c.4469A>G XP_011520939.1:p.Lys1490Arg
XM_011522638.1:c.4361A>G XP_011520940.1:p.Lys1454Arg
XM_011522638.2:c.4634A>G XP_011520940.2:p.Lys1545Arg
XM_011522639.1:c.4343A>G XP_011520941.1:p.Lys1448Arg
XM_011522639.2:c.4343A>G XP_011520941.1:p.Lys1448Arg
XM_011522640.1:c.4340A>G XP_011520942.1:p.Lys1447Arg
XM_011522640.2:c.4340A>G XP_011520942.1:p.Lys1447Arg
XM_011522641.1:c.4109A>G XP_011520943.1:p.Lys1370Arg
XM_017023615.1:c.4415A>G XP_016879104.1:p.Lys1472Arg
XM_017023616.1:c.4286A>G XP_016879105.1:p.Lys1429Arg
XM_017023617.1:c.4382A>G XP_016879106.1:p.Lys1461Arg
XM_017023618.1:c.3128A>G XP_016879107.1:p.Lys1043Arg
XM_024450413.1:c.4217A>G XP_024306181.1:p.Lys1406Arg