Canonical Allele Identifier: CA394304830

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2725000
• ClinVar RCV Id: RCV003513371
• MyVariant Identifiers: chr16:g.2135285A>G (hg19) ; chr16:g.2085284A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085284A>G , CM000678.2:g.2085284A>G	GRCh38
NC_000016.9:g.2135285A>G , CM000678.1:g.2135285A>G	GRCh37
NC_000016.8:g.2075286A>G	NCBI36
NG_005895.1:g.40979A>G , LRG_487:g.40979A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2973A>G	ENSP00000455997.2:n.*2973A>G
ENST00000642206.2:c.4471A>G	ENSP00000495146.2:p.Thr1491Ala
ENST00000642365.2:c.4621A>G	ENSP00000495459.2:p.Thr1541Ala
ENST00000644417.2:c.*5004A>G	ENSP00000493912.2:n.*5004A>G
ENST00000646464.2:c.*7373A>G	ENSP00000496610.2:n.*7373A>G
ENST00000219476.9:c.4624A>G MANE Select	ENSP00000219476.3:p.Thr1542Ala
ENST00000350773.9:c.4555A>G	ENSP00000344383.4:p.Thr1519Ala
ENST00000401874.7:c.4423A>G	ENSP00000384468.2:p.Thr1475Ala
ENST00000568454.6:c.4456A>G	ENSP00000454487.1:p.Thr1486Ala
ENST00000569110.2:c.847A>G
ENST00000569930.2:n.2506A>G
ENST00000642365.1:c.3278A>G
ENST00000642561.1:c.4495A>G	ENSP00000495099.1:p.Thr1499Ala
ENST00000642728.1:n.806A>G
ENST00000642791.1:n.221A>G
ENST00000642797.1:c.4426A>G	ENSP00000493846.1:p.Thr1476Ala
ENST00000642936.1:c.4492A>G	ENSP00000494514.1:p.Thr1498Ala
ENST00000643088.1:c.4417A>G	ENSP00000494747.1:p.Thr1473Ala
ENST00000643177.1:n.638A>G
ENST00000643426.1:n.2272A>G
ENST00000643946.1:c.4549A>G	ENSP00000495927.1:p.Thr1517Ala
ENST00000644043.1:c.4495A>G	ENSP00000496262.1:p.Thr1499Ala
ENST00000644278.1:n.106A>G
ENST00000644329.1:c.4423A>G	ENSP00000496611.1:p.Thr1475Ala
ENST00000644335.1:c.4420A>G	ENSP00000496317.1:p.Thr1474Ala
ENST00000644399.1:c.4545A>G
ENST00000645024.1:n.2708A>G
ENST00000646388.1:c.4618A>G	ENSP00000495921.1:p.Thr1540Ala
ENST00000646634.1:n.3439A>G
ENST00000646674.1:n.1876A>G
ENST00000647042.1:n.1847A>G
ENST00000647180.1:n.1737A>G
ENST00000219476.7:c.4624A>G	ENSP00000219476.3:p.Thr1542Ala
ENST00000350773.8:c.4555A>G	ENSP00000344383.4:p.Thr1519Ala
ENST00000382538.10:c.4279A>G	ENSP00000371978.6:p.Thr1427Ala
ENST00000401874.6:c.4423A>G	ENSP00000384468.2:p.Thr1475Ala
ENST00000439117.6:c.*3791A>G	ENSP00000406980.2:n.*3791A>G
ENST00000439673.6:c.4315A>G	ENSP00000399232.2:p.Thr1439Ala
ENST00000497886.5:n.2382A>G
ENST00000568454.5:c.4456A>G	ENSP00000454487.1:p.Thr1486Ala
ENST00000569110.1:c.806A>G
ENST00000569930.1:n.1739A>G
NM_000548.3:c.4624A>G , LRG_487t1:c.4624A>G	NP_000539.2:p.Thr1542Ala
NM_001077183.1:c.4423A>G	NP_001070651.1:p.Thr1475Ala
NM_001114382.1:c.4555A>G	NP_001107854.1:p.Thr1519Ala
XM_005255529.3:c.4495A>G	XP_005255586.2:p.Thr1499Ala
XM_005255531.3:c.4426A>G	XP_005255588.2:p.Thr1476Ala
XM_011522636.1:c.4678A>G	XP_011520938.1:p.Thr1560Ala
XM_011522637.1:c.4675A>G	XP_011520939.1:p.Thr1559Ala
XM_011522638.1:c.4567A>G	XP_011520940.1:p.Thr1523Ala
XM_011522639.1:c.4549A>G	XP_011520941.1:p.Thr1517Ala
XM_011522640.1:c.4546A>G	XP_011520942.1:p.Thr1516Ala
XM_011522641.1:c.4315A>G	XP_011520943.1:p.Thr1439Ala
NM_000548.4:c.4624A>G	NP_000539.2:p.Thr1542Ala
NM_001077183.2:c.4423A>G	NP_001070651.1:p.Thr1475Ala
NM_001114382.2:c.4555A>G	NP_001107854.1:p.Thr1519Ala
NM_001318827.1:c.4315A>G	NP_001305756.1:p.Thr1439Ala
NM_001318829.1:c.4279A>G	NP_001305758.1:p.Thr1427Ala
NM_001318831.1:c.3892A>G	NP_001305760.1:p.Thr1298Ala
NM_001318832.1:c.4456A>G	NP_001305761.1:p.Thr1486Ala
NM_001363528.1:c.4426A>G	NP_001350457.1:p.Thr1476Ala
NM_021055.2:c.4495A>G	NP_066399.2:p.Thr1499Ala
XM_005255531.4:c.4426A>G	XP_005255588.2:p.Thr1476Ala
XM_011522636.2:c.4678A>G	XP_011520938.1:p.Thr1560Ala
XM_011522637.2:c.4675A>G	XP_011520939.1:p.Thr1559Ala
XM_011522638.2:c.4840A>G	XP_011520940.2:p.Thr1614Ala
XM_011522639.2:c.4549A>G	XP_011520941.1:p.Thr1517Ala
XM_011522640.2:c.4546A>G	XP_011520942.1:p.Thr1516Ala
XM_017023615.1:c.4621A>G	XP_016879104.1:p.Thr1541Ala
XM_017023616.1:c.4492A>G	XP_016879105.1:p.Thr1498Ala
XM_017023617.1:c.4588A>G	XP_016879106.1:p.Thr1530Ala
XM_017023618.1:c.3334A>G	XP_016879107.1:p.Thr1112Ala
XM_024450413.1:c.4423A>G	XP_024306181.1:p.Thr1475Ala
NM_000548.5:c.4624A>G MANE Select	NP_000539.2:p.Thr1542Ala
NM_001370404.1:c.4492A>G	NP_001357333.1:p.Thr1498Ala
NM_001370405.1:c.4495A>G	NP_001357334.1:p.Thr1499Ala
NM_001077183.3:c.4423A>G	NP_001070651.1:p.Thr1475Ala
NM_001114382.3:c.4555A>G	NP_001107854.1:p.Thr1519Ala
NM_001318827.2:c.4315A>G	NP_001305756.1:p.Thr1439Ala
NM_001318829.2:c.4279A>G	NP_001305758.1:p.Thr1427Ala
NM_001318831.2:c.3892A>G	NP_001305760.1:p.Thr1298Ala
NM_001318832.2:c.4456A>G	NP_001305761.1:p.Thr1486Ala
NM_001363528.2:c.4426A>G	NP_001350457.1:p.Thr1476Ala
NM_021055.3:c.4495A>G	NP_066399.2:p.Thr1499Ala