Canonical Allele Identifier: CA394305002

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1000977
• ClinVar RCV Id: RCV001297190
• dbSNP Id: rs2090633103
• MyVariant Identifiers: chr16:g.2135309G>T (hg19) ; chr16:g.2085308G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2997G>T	ENSP00000455997.2:n.*2997G>T
ENST00000642206.2:c.4495G>T	ENSP00000495146.2:p.Val1499Phe
ENST00000642365.2:c.4645G>T	ENSP00000495459.2:p.Val1549Phe
ENST00000644417.2:c.*5028G>T	ENSP00000493912.2:n.*5028G>T
ENST00000646464.2:c.*7397G>T	ENSP00000496610.2:n.*7397G>T
ENST00000219476.9:c.4648G>T MANE Select	ENSP00000219476.3:p.Val1550Phe
ENST00000350773.9:c.4579G>T	ENSP00000344383.4:p.Val1527Phe
ENST00000401874.7:c.4447G>T	ENSP00000384468.2:p.Val1483Phe
ENST00000568454.6:c.4480G>T	ENSP00000454487.1:p.Val1494Phe
ENST00000569110.2:c.871G>T
ENST00000569930.2:n.2530G>T
ENST00000642365.1:c.3302G>T
ENST00000642561.1:c.4519G>T	ENSP00000495099.1:p.Val1507Phe
ENST00000642728.1:n.830G>T
ENST00000642791.1:n.245G>T
ENST00000642797.1:c.4450G>T	ENSP00000493846.1:p.Val1484Phe
ENST00000642936.1:c.4516G>T	ENSP00000494514.1:p.Val1506Phe
ENST00000643088.1:c.4441G>T	ENSP00000494747.1:p.Val1481Phe
ENST00000643177.1:n.662G>T
ENST00000643426.1:n.2296G>T
ENST00000643946.1:c.4573G>T	ENSP00000495927.1:p.Val1525Phe
ENST00000644043.1:c.4519G>T	ENSP00000496262.1:p.Val1507Phe
ENST00000644278.1:n.130G>T
ENST00000644329.1:c.4447G>T	ENSP00000496611.1:p.Val1483Phe
ENST00000644335.1:c.4444G>T	ENSP00000496317.1:p.Val1482Phe
ENST00000644399.1:c.4569G>T
ENST00000645024.1:n.2732G>T
ENST00000646388.1:c.4642G>T	ENSP00000495921.1:p.Val1548Phe
ENST00000646634.1:n.3463G>T
ENST00000646674.1:n.1900G>T
ENST00000647042.1:n.1871G>T
ENST00000647180.1:n.1761G>T
ENST00000219476.7:c.4648G>T	ENSP00000219476.3:p.Val1550Phe
ENST00000350773.8:c.4579G>T	ENSP00000344383.4:p.Val1527Phe
ENST00000382538.10:c.4303G>T	ENSP00000371978.6:p.Val1435Phe
ENST00000401874.6:c.4447G>T	ENSP00000384468.2:p.Val1483Phe
ENST00000439117.6:c.*3815G>T	ENSP00000406980.2:n.*3815G>T
ENST00000439673.6:c.4339G>T	ENSP00000399232.2:p.Val1447Phe
ENST00000497886.5:n.2406G>T
ENST00000568454.5:c.4480G>T	ENSP00000454487.1:p.Val1494Phe
ENST00000569110.1:c.830G>T
ENST00000569930.1:n.1763G>T
NM_000548.3:c.4648G>T , LRG_487t1:c.4648G>T	NP_000539.2:p.Val1550Phe
NM_001077183.1:c.4447G>T	NP_001070651.1:p.Val1483Phe
NM_001114382.1:c.4579G>T	NP_001107854.1:p.Val1527Phe
XM_005255529.3:c.4519G>T	XP_005255586.2:p.Val1507Phe
XM_005255531.3:c.4450G>T	XP_005255588.2:p.Val1484Phe
XM_011522636.1:c.4702G>T	XP_011520938.1:p.Val1568Phe
XM_011522637.1:c.4699G>T	XP_011520939.1:p.Val1567Phe
XM_011522638.1:c.4591G>T	XP_011520940.1:p.Val1531Phe
XM_011522639.1:c.4573G>T	XP_011520941.1:p.Val1525Phe
XM_011522640.1:c.4570G>T	XP_011520942.1:p.Val1524Phe
XM_011522641.1:c.4339G>T	XP_011520943.1:p.Val1447Phe
NM_000548.4:c.4648G>T	NP_000539.2:p.Val1550Phe
NM_001077183.2:c.4447G>T	NP_001070651.1:p.Val1483Phe
NM_001114382.2:c.4579G>T	NP_001107854.1:p.Val1527Phe
NM_001318827.1:c.4339G>T	NP_001305756.1:p.Val1447Phe
NM_001318829.1:c.4303G>T	NP_001305758.1:p.Val1435Phe
NM_001318831.1:c.3916G>T	NP_001305760.1:p.Val1306Phe
NM_001318832.1:c.4480G>T	NP_001305761.1:p.Val1494Phe
NM_001363528.1:c.4450G>T	NP_001350457.1:p.Val1484Phe
NM_021055.2:c.4519G>T	NP_066399.2:p.Val1507Phe
XM_005255531.4:c.4450G>T	XP_005255588.2:p.Val1484Phe
XM_011522636.2:c.4702G>T	XP_011520938.1:p.Val1568Phe
XM_011522637.2:c.4699G>T	XP_011520939.1:p.Val1567Phe
XM_011522638.2:c.4864G>T	XP_011520940.2:p.Val1622Phe
XM_011522639.2:c.4573G>T	XP_011520941.1:p.Val1525Phe
XM_011522640.2:c.4570G>T	XP_011520942.1:p.Val1524Phe
XM_017023615.1:c.4645G>T	XP_016879104.1:p.Val1549Phe
XM_017023616.1:c.4516G>T	XP_016879105.1:p.Val1506Phe
XM_017023617.1:c.4612G>T	XP_016879106.1:p.Val1538Phe
XM_017023618.1:c.3358G>T	XP_016879107.1:p.Val1120Phe
XM_024450413.1:c.4447G>T	XP_024306181.1:p.Val1483Phe
NM_000548.5:c.4648G>T MANE Select	NP_000539.2:p.Val1550Phe
NM_001370404.1:c.4516G>T	NP_001357333.1:p.Val1506Phe
NM_001370405.1:c.4519G>T	NP_001357334.1:p.Val1507Phe
NM_001077183.3:c.4447G>T	NP_001070651.1:p.Val1483Phe
NM_001114382.3:c.4579G>T	NP_001107854.1:p.Val1527Phe
NM_001318827.2:c.4339G>T	NP_001305756.1:p.Val1447Phe
NM_001318829.2:c.4303G>T	NP_001305758.1:p.Val1435Phe
NM_001318831.2:c.3916G>T	NP_001305760.1:p.Val1306Phe
NM_001318832.2:c.4480G>T	NP_001305761.1:p.Val1494Phe
NM_001363528.2:c.4450G>T	NP_001350457.1:p.Val1484Phe
NM_021055.3:c.4519G>T	NP_066399.2:p.Val1507Phe