Canonical Allele Identifier: CA020809

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49479
• ClinVar RCV Id: RCV000042739 ; RCV000412893 ; RCV001036250
• dbSNP Id: rs45517355
• MyVariant Identifiers: chr16:g.2135307A>G (hg19) ; chr16:g.2085306A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085306A>G , CM000678.2:g.2085306A>G	GRCh38
NC_000016.9:g.2135307A>G , CM000678.1:g.2135307A>G	GRCh37
NC_000016.8:g.2075308A>G	NCBI36
NG_005895.1:g.41001A>G , LRG_487:g.41001A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2995A>G	ENSP00000455997.2:n.*2995A>G
ENST00000642206.2:c.4493A>G	ENSP00000495146.2:p.Tyr1498Cys
ENST00000642365.2:c.4643A>G	ENSP00000495459.2:p.Tyr1548Cys
ENST00000644417.2:c.*5026A>G	ENSP00000493912.2:n.*5026A>G
ENST00000646464.2:c.*7395A>G	ENSP00000496610.2:n.*7395A>G
ENST00000219476.9:c.4646A>G MANE Select	ENSP00000219476.3:p.Tyr1549Cys
ENST00000350773.9:c.4577A>G	ENSP00000344383.4:p.Tyr1526Cys
ENST00000401874.7:c.4445A>G	ENSP00000384468.2:p.Tyr1482Cys
ENST00000568454.6:c.4478A>G	ENSP00000454487.1:p.Tyr1493Cys
ENST00000569110.2:c.869A>G
ENST00000569930.2:n.2528A>G
ENST00000642365.1:c.3300A>G
ENST00000642561.1:c.4517A>G	ENSP00000495099.1:p.Tyr1506Cys
ENST00000642728.1:n.828A>G
ENST00000642791.1:n.243A>G
ENST00000642797.1:c.4448A>G	ENSP00000493846.1:p.Tyr1483Cys
ENST00000642936.1:c.4514A>G	ENSP00000494514.1:p.Tyr1505Cys
ENST00000643088.1:c.4439A>G	ENSP00000494747.1:p.Tyr1480Cys
ENST00000643177.1:n.660A>G
ENST00000643426.1:n.2294A>G
ENST00000643946.1:c.4571A>G	ENSP00000495927.1:p.Tyr1524Cys
ENST00000644043.1:c.4517A>G	ENSP00000496262.1:p.Tyr1506Cys
ENST00000644278.1:n.128A>G
ENST00000644329.1:c.4445A>G	ENSP00000496611.1:p.Tyr1482Cys
ENST00000644335.1:c.4442A>G	ENSP00000496317.1:p.Tyr1481Cys
ENST00000644399.1:c.4567A>G
ENST00000645024.1:n.2730A>G
ENST00000646388.1:c.4640A>G	ENSP00000495921.1:p.Tyr1547Cys
ENST00000646634.1:n.3461A>G
ENST00000646674.1:n.1898A>G
ENST00000647042.1:n.1869A>G
ENST00000647180.1:n.1759A>G
ENST00000219476.7:c.4646A>G	ENSP00000219476.3:p.Tyr1549Cys
ENST00000350773.8:c.4577A>G	ENSP00000344383.4:p.Tyr1526Cys
ENST00000382538.10:c.4301A>G	ENSP00000371978.6:p.Tyr1434Cys
ENST00000401874.6:c.4445A>G	ENSP00000384468.2:p.Tyr1482Cys
ENST00000439117.6:c.*3813A>G	ENSP00000406980.2:n.*3813A>G
ENST00000439673.6:c.4337A>G	ENSP00000399232.2:p.Tyr1446Cys
ENST00000497886.5:n.2404A>G
ENST00000568454.5:c.4478A>G	ENSP00000454487.1:p.Tyr1493Cys
ENST00000569110.1:c.828A>G
ENST00000569930.1:n.1761A>G
NM_000548.3:c.4646A>G , LRG_487t1:c.4646A>G	NP_000539.2:p.Tyr1549Cys
NM_001077183.1:c.4445A>G	NP_001070651.1:p.Tyr1482Cys
NM_001114382.1:c.4577A>G	NP_001107854.1:p.Tyr1526Cys
XM_005255529.3:c.4517A>G	XP_005255586.2:p.Tyr1506Cys
XM_005255531.3:c.4448A>G	XP_005255588.2:p.Tyr1483Cys
XM_011522636.1:c.4700A>G	XP_011520938.1:p.Tyr1567Cys
XM_011522637.1:c.4697A>G	XP_011520939.1:p.Tyr1566Cys
XM_011522638.1:c.4589A>G	XP_011520940.1:p.Tyr1530Cys
XM_011522639.1:c.4571A>G	XP_011520941.1:p.Tyr1524Cys
XM_011522640.1:c.4568A>G	XP_011520942.1:p.Tyr1523Cys
XM_011522641.1:c.4337A>G	XP_011520943.1:p.Tyr1446Cys
NM_000548.4:c.4646A>G	NP_000539.2:p.Tyr1549Cys
NM_001077183.2:c.4445A>G	NP_001070651.1:p.Tyr1482Cys
NM_001114382.2:c.4577A>G	NP_001107854.1:p.Tyr1526Cys
NM_001318827.1:c.4337A>G	NP_001305756.1:p.Tyr1446Cys
NM_001318829.1:c.4301A>G	NP_001305758.1:p.Tyr1434Cys
NM_001318831.1:c.3914A>G	NP_001305760.1:p.Tyr1305Cys
NM_001318832.1:c.4478A>G	NP_001305761.1:p.Tyr1493Cys
NM_001363528.1:c.4448A>G	NP_001350457.1:p.Tyr1483Cys
NM_021055.2:c.4517A>G	NP_066399.2:p.Tyr1506Cys
XM_005255531.4:c.4448A>G	XP_005255588.2:p.Tyr1483Cys
XM_011522636.2:c.4700A>G	XP_011520938.1:p.Tyr1567Cys
XM_011522637.2:c.4697A>G	XP_011520939.1:p.Tyr1566Cys
XM_011522638.2:c.4862A>G	XP_011520940.2:p.Tyr1621Cys
XM_011522639.2:c.4571A>G	XP_011520941.1:p.Tyr1524Cys
XM_011522640.2:c.4568A>G	XP_011520942.1:p.Tyr1523Cys
XM_017023615.1:c.4643A>G	XP_016879104.1:p.Tyr1548Cys
XM_017023616.1:c.4514A>G	XP_016879105.1:p.Tyr1505Cys
XM_017023617.1:c.4610A>G	XP_016879106.1:p.Tyr1537Cys
XM_017023618.1:c.3356A>G	XP_016879107.1:p.Tyr1119Cys
XM_024450413.1:c.4445A>G	XP_024306181.1:p.Tyr1482Cys
NM_000548.5:c.4646A>G MANE Select	NP_000539.2:p.Tyr1549Cys
NM_001370404.1:c.4514A>G	NP_001357333.1:p.Tyr1505Cys
NM_001370405.1:c.4517A>G	NP_001357334.1:p.Tyr1506Cys
NM_001077183.3:c.4445A>G	NP_001070651.1:p.Tyr1482Cys
NM_001114382.3:c.4577A>G	NP_001107854.1:p.Tyr1526Cys
NM_001318827.2:c.4337A>G	NP_001305756.1:p.Tyr1446Cys
NM_001318829.2:c.4301A>G	NP_001305758.1:p.Tyr1434Cys
NM_001318831.2:c.3914A>G	NP_001305760.1:p.Tyr1305Cys
NM_001318832.2:c.4478A>G	NP_001305761.1:p.Tyr1493Cys
NM_001363528.2:c.4448A>G	NP_001350457.1:p.Tyr1483Cys
NM_021055.3:c.4517A>G	NP_066399.2:p.Tyr1506Cys