Canonical Allele Identifier: CA394304835

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1692504
• ClinVar RCV Id: RCV002255924 ; RCV003512141
• dbSNP Id: rs2090628070
• gnomAD v4: 16-2085285-C-G
• MyVariant Identifiers: chr16:g.2135286C>G (hg19) ; chr16:g.2085285C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085285C>G , CM000678.2:g.2085285C>G	GRCh38
NC_000016.9:g.2135286C>G , CM000678.1:g.2135286C>G	GRCh37
NC_000016.8:g.2075287C>G	NCBI36
NG_005895.1:g.40980C>G , LRG_487:g.40980C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2974C>G	ENSP00000455997.2:n.*2974C>G
ENST00000642206.2:c.4472C>G	ENSP00000495146.2:p.Thr1491Ser
ENST00000642365.2:c.4622C>G	ENSP00000495459.2:p.Thr1541Ser
ENST00000644417.2:c.*5005C>G	ENSP00000493912.2:n.*5005C>G
ENST00000646464.2:c.*7374C>G	ENSP00000496610.2:n.*7374C>G
ENST00000219476.9:c.4625C>G MANE Select	ENSP00000219476.3:p.Thr1542Ser
ENST00000350773.9:c.4556C>G	ENSP00000344383.4:p.Thr1519Ser
ENST00000401874.7:c.4424C>G	ENSP00000384468.2:p.Thr1475Ser
ENST00000568454.6:c.4457C>G	ENSP00000454487.1:p.Thr1486Ser
ENST00000569110.2:c.848C>G
ENST00000569930.2:n.2507C>G
ENST00000642365.1:c.3279C>G
ENST00000642561.1:c.4496C>G	ENSP00000495099.1:p.Thr1499Ser
ENST00000642728.1:n.807C>G
ENST00000642791.1:n.222C>G
ENST00000642797.1:c.4427C>G	ENSP00000493846.1:p.Thr1476Ser
ENST00000642936.1:c.4493C>G	ENSP00000494514.1:p.Thr1498Ser
ENST00000643088.1:c.4418C>G	ENSP00000494747.1:p.Thr1473Ser
ENST00000643177.1:n.639C>G
ENST00000643426.1:n.2273C>G
ENST00000643946.1:c.4550C>G	ENSP00000495927.1:p.Thr1517Ser
ENST00000644043.1:c.4496C>G	ENSP00000496262.1:p.Thr1499Ser
ENST00000644278.1:n.107C>G
ENST00000644329.1:c.4424C>G	ENSP00000496611.1:p.Thr1475Ser
ENST00000644335.1:c.4421C>G	ENSP00000496317.1:p.Thr1474Ser
ENST00000644399.1:c.4546C>G
ENST00000645024.1:n.2709C>G
ENST00000646388.1:c.4619C>G	ENSP00000495921.1:p.Thr1540Ser
ENST00000646634.1:n.3440C>G
ENST00000646674.1:n.1877C>G
ENST00000647042.1:n.1848C>G
ENST00000647180.1:n.1738C>G
ENST00000219476.7:c.4625C>G	ENSP00000219476.3:p.Thr1542Ser
ENST00000350773.8:c.4556C>G	ENSP00000344383.4:p.Thr1519Ser
ENST00000382538.10:c.4280C>G	ENSP00000371978.6:p.Thr1427Ser
ENST00000401874.6:c.4424C>G	ENSP00000384468.2:p.Thr1475Ser
ENST00000439117.6:c.*3792C>G	ENSP00000406980.2:n.*3792C>G
ENST00000439673.6:c.4316C>G	ENSP00000399232.2:p.Thr1439Ser
ENST00000497886.5:n.2383C>G
ENST00000568454.5:c.4457C>G	ENSP00000454487.1:p.Thr1486Ser
ENST00000569110.1:c.807C>G
ENST00000569930.1:n.1740C>G
NM_000548.3:c.4625C>G , LRG_487t1:c.4625C>G	NP_000539.2:p.Thr1542Ser
NM_001077183.1:c.4424C>G	NP_001070651.1:p.Thr1475Ser
NM_001114382.1:c.4556C>G	NP_001107854.1:p.Thr1519Ser
XM_005255529.3:c.4496C>G	XP_005255586.2:p.Thr1499Ser
XM_005255531.3:c.4427C>G	XP_005255588.2:p.Thr1476Ser
XM_011522636.1:c.4679C>G	XP_011520938.1:p.Thr1560Ser
XM_011522637.1:c.4676C>G	XP_011520939.1:p.Thr1559Ser
XM_011522638.1:c.4568C>G	XP_011520940.1:p.Thr1523Ser
XM_011522639.1:c.4550C>G	XP_011520941.1:p.Thr1517Ser
XM_011522640.1:c.4547C>G	XP_011520942.1:p.Thr1516Ser
XM_011522641.1:c.4316C>G	XP_011520943.1:p.Thr1439Ser
NM_000548.4:c.4625C>G	NP_000539.2:p.Thr1542Ser
NM_001077183.2:c.4424C>G	NP_001070651.1:p.Thr1475Ser
NM_001114382.2:c.4556C>G	NP_001107854.1:p.Thr1519Ser
NM_001318827.1:c.4316C>G	NP_001305756.1:p.Thr1439Ser
NM_001318829.1:c.4280C>G	NP_001305758.1:p.Thr1427Ser
NM_001318831.1:c.3893C>G	NP_001305760.1:p.Thr1298Ser
NM_001318832.1:c.4457C>G	NP_001305761.1:p.Thr1486Ser
NM_001363528.1:c.4427C>G	NP_001350457.1:p.Thr1476Ser
NM_021055.2:c.4496C>G	NP_066399.2:p.Thr1499Ser
XM_005255531.4:c.4427C>G	XP_005255588.2:p.Thr1476Ser
XM_011522636.2:c.4679C>G	XP_011520938.1:p.Thr1560Ser
XM_011522637.2:c.4676C>G	XP_011520939.1:p.Thr1559Ser
XM_011522638.2:c.4841C>G	XP_011520940.2:p.Thr1614Ser
XM_011522639.2:c.4550C>G	XP_011520941.1:p.Thr1517Ser
XM_011522640.2:c.4547C>G	XP_011520942.1:p.Thr1516Ser
XM_017023615.1:c.4622C>G	XP_016879104.1:p.Thr1541Ser
XM_017023616.1:c.4493C>G	XP_016879105.1:p.Thr1498Ser
XM_017023617.1:c.4589C>G	XP_016879106.1:p.Thr1530Ser
XM_017023618.1:c.3335C>G	XP_016879107.1:p.Thr1112Ser
XM_024450413.1:c.4424C>G	XP_024306181.1:p.Thr1475Ser
NM_000548.5:c.4625C>G MANE Select	NP_000539.2:p.Thr1542Ser
NM_001370404.1:c.4493C>G	NP_001357333.1:p.Thr1498Ser
NM_001370405.1:c.4496C>G	NP_001357334.1:p.Thr1499Ser
NM_001077183.3:c.4424C>G	NP_001070651.1:p.Thr1475Ser
NM_001114382.3:c.4556C>G	NP_001107854.1:p.Thr1519Ser
NM_001318827.2:c.4316C>G	NP_001305756.1:p.Thr1439Ser
NM_001318829.2:c.4280C>G	NP_001305758.1:p.Thr1427Ser
NM_001318831.2:c.3893C>G	NP_001305760.1:p.Thr1298Ser
NM_001318832.2:c.4457C>G	NP_001305761.1:p.Thr1486Ser
NM_001363528.2:c.4427C>G	NP_001350457.1:p.Thr1476Ser
NM_021055.3:c.4496C>G	NP_066399.2:p.Thr1499Ser