Canonical Allele Identifier: CA394305000

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2717103
• ClinVar RCV Id: RCV003513215
• MyVariant Identifiers: chr16:g.2135309G>A (hg19) ; chr16:g.2085308G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085308G>A , CM000678.2:g.2085308G>A	GRCh38
NC_000016.9:g.2135309G>A , CM000678.1:g.2135309G>A	GRCh37
NC_000016.8:g.2075310G>A	NCBI36
NG_005895.1:g.41003G>A , LRG_487:g.41003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2997G>A	ENSP00000455997.2:n.*2997G>A
ENST00000642206.2:c.4495G>A	ENSP00000495146.2:p.Val1499Ile
ENST00000642365.2:c.4645G>A	ENSP00000495459.2:p.Val1549Ile
ENST00000644417.2:c.*5028G>A	ENSP00000493912.2:n.*5028G>A
ENST00000646464.2:c.*7397G>A	ENSP00000496610.2:n.*7397G>A
ENST00000219476.9:c.4648G>A MANE Select	ENSP00000219476.3:p.Val1550Ile
ENST00000350773.9:c.4579G>A	ENSP00000344383.4:p.Val1527Ile
ENST00000401874.7:c.4447G>A	ENSP00000384468.2:p.Val1483Ile
ENST00000568454.6:c.4480G>A	ENSP00000454487.1:p.Val1494Ile
ENST00000569110.2:c.871G>A
ENST00000569930.2:n.2530G>A
ENST00000642365.1:c.3302G>A
ENST00000642561.1:c.4519G>A	ENSP00000495099.1:p.Val1507Ile
ENST00000642728.1:n.830G>A
ENST00000642791.1:n.245G>A
ENST00000642797.1:c.4450G>A	ENSP00000493846.1:p.Val1484Ile
ENST00000642936.1:c.4516G>A	ENSP00000494514.1:p.Val1506Ile
ENST00000643088.1:c.4441G>A	ENSP00000494747.1:p.Val1481Ile
ENST00000643177.1:n.662G>A
ENST00000643426.1:n.2296G>A
ENST00000643946.1:c.4573G>A	ENSP00000495927.1:p.Val1525Ile
ENST00000644043.1:c.4519G>A	ENSP00000496262.1:p.Val1507Ile
ENST00000644278.1:n.130G>A
ENST00000644329.1:c.4447G>A	ENSP00000496611.1:p.Val1483Ile
ENST00000644335.1:c.4444G>A	ENSP00000496317.1:p.Val1482Ile
ENST00000644399.1:c.4569G>A
ENST00000645024.1:n.2732G>A
ENST00000646388.1:c.4642G>A	ENSP00000495921.1:p.Val1548Ile
ENST00000646634.1:n.3463G>A
ENST00000646674.1:n.1900G>A
ENST00000647042.1:n.1871G>A
ENST00000647180.1:n.1761G>A
ENST00000219476.7:c.4648G>A	ENSP00000219476.3:p.Val1550Ile
ENST00000350773.8:c.4579G>A	ENSP00000344383.4:p.Val1527Ile
ENST00000382538.10:c.4303G>A	ENSP00000371978.6:p.Val1435Ile
ENST00000401874.6:c.4447G>A	ENSP00000384468.2:p.Val1483Ile
ENST00000439117.6:c.*3815G>A	ENSP00000406980.2:n.*3815G>A
ENST00000439673.6:c.4339G>A	ENSP00000399232.2:p.Val1447Ile
ENST00000497886.5:n.2406G>A
ENST00000568454.5:c.4480G>A	ENSP00000454487.1:p.Val1494Ile
ENST00000569110.1:c.830G>A
ENST00000569930.1:n.1763G>A
NM_000548.3:c.4648G>A , LRG_487t1:c.4648G>A	NP_000539.2:p.Val1550Ile
NM_001077183.1:c.4447G>A	NP_001070651.1:p.Val1483Ile
NM_001114382.1:c.4579G>A	NP_001107854.1:p.Val1527Ile
XM_005255529.3:c.4519G>A	XP_005255586.2:p.Val1507Ile
XM_005255531.3:c.4450G>A	XP_005255588.2:p.Val1484Ile
XM_011522636.1:c.4702G>A	XP_011520938.1:p.Val1568Ile
XM_011522637.1:c.4699G>A	XP_011520939.1:p.Val1567Ile
XM_011522638.1:c.4591G>A	XP_011520940.1:p.Val1531Ile
XM_011522639.1:c.4573G>A	XP_011520941.1:p.Val1525Ile
XM_011522640.1:c.4570G>A	XP_011520942.1:p.Val1524Ile
XM_011522641.1:c.4339G>A	XP_011520943.1:p.Val1447Ile
NM_000548.4:c.4648G>A	NP_000539.2:p.Val1550Ile
NM_001077183.2:c.4447G>A	NP_001070651.1:p.Val1483Ile
NM_001114382.2:c.4579G>A	NP_001107854.1:p.Val1527Ile
NM_001318827.1:c.4339G>A	NP_001305756.1:p.Val1447Ile
NM_001318829.1:c.4303G>A	NP_001305758.1:p.Val1435Ile
NM_001318831.1:c.3916G>A	NP_001305760.1:p.Val1306Ile
NM_001318832.1:c.4480G>A	NP_001305761.1:p.Val1494Ile
NM_001363528.1:c.4450G>A	NP_001350457.1:p.Val1484Ile
NM_021055.2:c.4519G>A	NP_066399.2:p.Val1507Ile
XM_005255531.4:c.4450G>A	XP_005255588.2:p.Val1484Ile
XM_011522636.2:c.4702G>A	XP_011520938.1:p.Val1568Ile
XM_011522637.2:c.4699G>A	XP_011520939.1:p.Val1567Ile
XM_011522638.2:c.4864G>A	XP_011520940.2:p.Val1622Ile
XM_011522639.2:c.4573G>A	XP_011520941.1:p.Val1525Ile
XM_011522640.2:c.4570G>A	XP_011520942.1:p.Val1524Ile
XM_017023615.1:c.4645G>A	XP_016879104.1:p.Val1549Ile
XM_017023616.1:c.4516G>A	XP_016879105.1:p.Val1506Ile
XM_017023617.1:c.4612G>A	XP_016879106.1:p.Val1538Ile
XM_017023618.1:c.3358G>A	XP_016879107.1:p.Val1120Ile
XM_024450413.1:c.4447G>A	XP_024306181.1:p.Val1483Ile
NM_000548.5:c.4648G>A MANE Select	NP_000539.2:p.Val1550Ile
NM_001370404.1:c.4516G>A	NP_001357333.1:p.Val1506Ile
NM_001370405.1:c.4519G>A	NP_001357334.1:p.Val1507Ile
NM_001077183.3:c.4447G>A	NP_001070651.1:p.Val1483Ile
NM_001114382.3:c.4579G>A	NP_001107854.1:p.Val1527Ile
NM_001318827.2:c.4339G>A	NP_001305756.1:p.Val1447Ile
NM_001318829.2:c.4303G>A	NP_001305758.1:p.Val1435Ile
NM_001318831.2:c.3916G>A	NP_001305760.1:p.Val1306Ile
NM_001318832.2:c.4480G>A	NP_001305761.1:p.Val1494Ile
NM_001363528.2:c.4450G>A	NP_001350457.1:p.Val1484Ile
NM_021055.3:c.4519G>A	NP_066399.2:p.Val1507Ile