Canonical Allele Identifier: CA394314147

Gene: TSC2

Linked Data

• gnomAD v3: 16-2088254-T-G
• gnomAD v4: 16-2088254-T-G
• MyVariant Identifiers: chr16:g.2138255T>G (hg19) ; chr16:g.2088254T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088254T>G , CM000678.2:g.2088254T>G	GRCh38
NC_000016.9:g.2138255T>G , CM000678.1:g.2138255T>G	GRCh37
NC_000016.8:g.2078256T>G	NCBI36
NG_005895.1:g.43949T>G , LRG_487:g.43949T>G
NG_008617.1:g.54967A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3537T>G	ENSP00000455997.2:n.*3537T>G
ENST00000642206.2:c.5035T>G	ENSP00000495146.2:p.Ser1679Ala
ENST00000642365.2:c.5185T>G	ENSP00000495459.2:p.Ser1729Ala
ENST00000644417.2:c.*5701T>G	ENSP00000493912.2:n.*5701T>G
ENST00000646464.2:c.*7937T>G	ENSP00000496610.2:n.*7937T>G
ENST00000219476.9:c.5188T>G MANE Select	ENSP00000219476.3:p.Ser1730Ala
ENST00000350773.9:c.5119T>G	ENSP00000344383.4:p.Ser1707Ala
ENST00000401874.7:c.4987T>G	ENSP00000384468.2:p.Ser1663Ala
ENST00000568454.6:c.5020T>G	ENSP00000454487.1:p.Ser1674Ala
ENST00000569110.2:c.1411T>G
ENST00000569930.2:n.3070T>G
ENST00000642365.1:c.3842T>G
ENST00000642561.1:c.5047T>G	ENSP00000495099.1:p.Ser1683Ala
ENST00000642791.1:n.785T>G
ENST00000642797.1:c.4990T>G	ENSP00000493846.1:p.Ser1664Ala
ENST00000642936.1:c.5056T>G	ENSP00000494514.1:p.Ser1686Ala
ENST00000643088.1:c.4981T>G	ENSP00000494747.1:p.Ser1661Ala
ENST00000643426.1:n.2836T>G
ENST00000643946.1:c.5113T>G	ENSP00000495927.1:p.Ser1705Ala
ENST00000644043.1:c.5059T>G	ENSP00000496262.1:p.Ser1687Ala
ENST00000644329.1:c.5074T>G	ENSP00000496611.1:p.Ser1692Ala
ENST00000644335.1:c.4984T>G	ENSP00000496317.1:p.Ser1662Ala
ENST00000644399.1:c.5109T>G
ENST00000645024.1:n.3272T>G
ENST00000646388.1:c.5182T>G	ENSP00000495921.1:p.Ser1728Ala
ENST00000646634.1:n.4003T>G
ENST00000646674.1:n.2440T>G
ENST00000647042.1:n.2411T>G
ENST00000647180.1:n.2301T>G
ENST00000219476.7:c.5188T>G	ENSP00000219476.3:p.Ser1730Ala
ENST00000350773.8:c.5119T>G	ENSP00000344383.4:p.Ser1707Ala
ENST00000382538.10:c.4843T>G	ENSP00000371978.6:p.Ser1615Ala
ENST00000401874.6:c.4987T>G	ENSP00000384468.2:p.Ser1663Ala
ENST00000439117.6:c.*4355T>G	ENSP00000406980.2:n.*4355T>G
ENST00000439673.6:c.4879T>G	ENSP00000399232.2:p.Ser1627Ala
ENST00000497886.5:n.2911T>G
ENST00000568454.5:c.5020T>G	ENSP00000454487.1:p.Ser1674Ala
ENST00000569110.1:c.1370T>G
ENST00000569930.1:n.2303T>G
NM_000548.3:c.5188T>G , LRG_487t1:c.5188T>G	NP_000539.2:p.Ser1730Ala
NM_001077183.1:c.4987T>G	NP_001070651.1:p.Ser1663Ala
NM_001114382.1:c.5119T>G	NP_001107854.1:p.Ser1707Ala
XM_005255529.3:c.5059T>G	XP_005255586.2:p.Ser1687Ala
XM_005255531.3:c.4990T>G	XP_005255588.2:p.Ser1664Ala
XM_011522636.1:c.5242T>G	XP_011520938.1:p.Ser1748Ala
XM_011522637.1:c.5239T>G	XP_011520939.1:p.Ser1747Ala
XM_011522638.1:c.5131T>G	XP_011520940.1:p.Ser1711Ala
XM_011522639.1:c.5113T>G	XP_011520941.1:p.Ser1705Ala
XM_011522640.1:c.5110T>G	XP_011520942.1:p.Ser1704Ala
XM_011522641.1:c.4879T>G	XP_011520943.1:p.Ser1627Ala
NM_000548.4:c.5188T>G	NP_000539.2:p.Ser1730Ala
NM_001077183.2:c.4987T>G	NP_001070651.1:p.Ser1663Ala
NM_001114382.2:c.5119T>G	NP_001107854.1:p.Ser1707Ala
NM_001318827.1:c.4879T>G	NP_001305756.1:p.Ser1627Ala
NM_001318829.1:c.4843T>G	NP_001305758.1:p.Ser1615Ala
NM_001318831.1:c.4456T>G	NP_001305760.1:p.Ser1486Ala
NM_001318832.1:c.5020T>G	NP_001305761.1:p.Ser1674Ala
NM_001363528.1:c.4990T>G	NP_001350457.1:p.Ser1664Ala
NM_021055.2:c.5059T>G	NP_066399.2:p.Ser1687Ala
XM_005255531.4:c.4990T>G	XP_005255588.2:p.Ser1664Ala
XM_011522636.2:c.5242T>G	XP_011520938.1:p.Ser1748Ala
XM_011522637.2:c.5239T>G	XP_011520939.1:p.Ser1747Ala
XM_011522638.2:c.5404T>G	XP_011520940.2:p.Ser1802Ala
XM_011522639.2:c.5113T>G	XP_011520941.1:p.Ser1705Ala
XM_011522640.2:c.5110T>G	XP_011520942.1:p.Ser1704Ala
XM_017023615.1:c.5185T>G	XP_016879104.1:p.Ser1729Ala
XM_017023616.1:c.5056T>G	XP_016879105.1:p.Ser1686Ala
XM_017023617.1:c.5152T>G	XP_016879106.1:p.Ser1718Ala
XM_017023618.1:c.3898T>G	XP_016879107.1:p.Ser1300Ala
XM_024450413.1:c.5074T>G	XP_024306181.1:p.Ser1692Ala
NM_000548.5:c.5188T>G MANE Select	NP_000539.2:p.Ser1730Ala
NM_001370404.1:c.5056T>G	NP_001357333.1:p.Ser1686Ala
NM_001370405.1:c.5047T>G	NP_001357334.1:p.Ser1683Ala
NM_001077183.3:c.4987T>G	NP_001070651.1:p.Ser1663Ala
NM_001114382.3:c.5119T>G	NP_001107854.1:p.Ser1707Ala
NM_001318827.2:c.4879T>G	NP_001305756.1:p.Ser1627Ala
NM_001318829.2:c.4843T>G	NP_001305758.1:p.Ser1615Ala
NM_001318831.2:c.4456T>G	NP_001305760.1:p.Ser1486Ala
NM_001318832.2:c.5020T>G	NP_001305761.1:p.Ser1674Ala
NM_001363528.2:c.4990T>G	NP_001350457.1:p.Ser1664Ala
NM_021055.3:c.5059T>G	NP_066399.2:p.Ser1687Ala