Canonical Allele Identifier: CA394314564

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1721813
• ClinVar RCV Id: RCV002295049
• MyVariant Identifiers: chr16:g.2138297C>G (hg19) ; chr16:g.2088296C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088296C>G , CM000678.2:g.2088296C>G	GRCh38
NC_000016.9:g.2138297C>G , CM000678.1:g.2138297C>G	GRCh37
NC_000016.8:g.2078298C>G	NCBI36
NG_005895.1:g.43991C>G , LRG_487:g.43991C>G
NG_008617.1:g.54925G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3579C>G	ENSP00000455997.2:n.*3579C>G
ENST00000642206.2:c.5077C>G	ENSP00000495146.2:p.Leu1693Val
ENST00000642365.2:c.5227C>G	ENSP00000495459.2:p.Leu1743Val
ENST00000644417.2:c.*5743C>G	ENSP00000493912.2:n.*5743C>G
ENST00000646464.2:c.*7979C>G	ENSP00000496610.2:n.*7979C>G
ENST00000219476.9:c.5230C>G MANE Select	ENSP00000219476.3:p.Leu1744Val
ENST00000350773.9:c.5161C>G	ENSP00000344383.4:p.Leu1721Val
ENST00000401874.7:c.5029C>G	ENSP00000384468.2:p.Leu1677Val
ENST00000568454.6:c.5062C>G	ENSP00000454487.1:p.Leu1688Val
ENST00000569110.2:c.1453C>G
ENST00000569930.2:n.3112C>G
ENST00000642365.1:c.3884C>G
ENST00000642561.1:c.5089C>G	ENSP00000495099.1:p.Leu1697Val
ENST00000642791.1:n.827C>G
ENST00000642797.1:c.5032C>G	ENSP00000493846.1:p.Leu1678Val
ENST00000642936.1:c.5098C>G	ENSP00000494514.1:p.Leu1700Val
ENST00000643088.1:c.5023C>G	ENSP00000494747.1:p.Leu1675Val
ENST00000643426.1:n.2878C>G
ENST00000643946.1:c.5155C>G	ENSP00000495927.1:p.Leu1719Val
ENST00000644043.1:c.5101C>G	ENSP00000496262.1:p.Leu1701Val
ENST00000644329.1:c.5116C>G	ENSP00000496611.1:p.Leu1706Val
ENST00000644335.1:c.5026C>G	ENSP00000496317.1:p.Leu1676Val
ENST00000644399.1:c.5151C>G
ENST00000645024.1:n.3314C>G
ENST00000646388.1:c.5224C>G	ENSP00000495921.1:p.Leu1742Val
ENST00000646634.1:n.4045C>G
ENST00000646674.1:n.2482C>G
ENST00000647042.1:n.2453C>G
ENST00000647180.1:n.2343C>G
ENST00000219476.7:c.5230C>G	ENSP00000219476.3:p.Leu1744Val
ENST00000350773.8:c.5161C>G	ENSP00000344383.4:p.Leu1721Val
ENST00000382538.10:c.4885C>G	ENSP00000371978.6:p.Leu1629Val
ENST00000401874.6:c.5029C>G	ENSP00000384468.2:p.Leu1677Val
ENST00000439117.6:c.*4397C>G	ENSP00000406980.2:n.*4397C>G
ENST00000439673.6:c.4921C>G	ENSP00000399232.2:p.Leu1641Val
ENST00000497886.5:n.2953C>G
ENST00000568454.5:c.5062C>G	ENSP00000454487.1:p.Leu1688Val
ENST00000569110.1:c.1412C>G
ENST00000569930.1:n.2345C>G
NM_000548.3:c.5230C>G , LRG_487t1:c.5230C>G	NP_000539.2:p.Leu1744Val
NM_001077183.1:c.5029C>G	NP_001070651.1:p.Leu1677Val
NM_001114382.1:c.5161C>G	NP_001107854.1:p.Leu1721Val
XM_005255529.3:c.5101C>G	XP_005255586.2:p.Leu1701Val
XM_005255531.3:c.5032C>G	XP_005255588.2:p.Leu1678Val
XM_011522636.1:c.5284C>G	XP_011520938.1:p.Leu1762Val
XM_011522637.1:c.5281C>G	XP_011520939.1:p.Leu1761Val
XM_011522638.1:c.5173C>G	XP_011520940.1:p.Leu1725Val
XM_011522639.1:c.5155C>G	XP_011520941.1:p.Leu1719Val
XM_011522640.1:c.5152C>G	XP_011520942.1:p.Leu1718Val
XM_011522641.1:c.4921C>G	XP_011520943.1:p.Leu1641Val
NM_000548.4:c.5230C>G	NP_000539.2:p.Leu1744Val
NM_001077183.2:c.5029C>G	NP_001070651.1:p.Leu1677Val
NM_001114382.2:c.5161C>G	NP_001107854.1:p.Leu1721Val
NM_001318827.1:c.4921C>G	NP_001305756.1:p.Leu1641Val
NM_001318829.1:c.4885C>G	NP_001305758.1:p.Leu1629Val
NM_001318831.1:c.4498C>G	NP_001305760.1:p.Leu1500Val
NM_001318832.1:c.5062C>G	NP_001305761.1:p.Leu1688Val
NM_001363528.1:c.5032C>G	NP_001350457.1:p.Leu1678Val
NM_021055.2:c.5101C>G	NP_066399.2:p.Leu1701Val
XM_005255531.4:c.5032C>G	XP_005255588.2:p.Leu1678Val
XM_011522636.2:c.5284C>G	XP_011520938.1:p.Leu1762Val
XM_011522637.2:c.5281C>G	XP_011520939.1:p.Leu1761Val
XM_011522638.2:c.5446C>G	XP_011520940.2:p.Leu1816Val
XM_011522639.2:c.5155C>G	XP_011520941.1:p.Leu1719Val
XM_011522640.2:c.5152C>G	XP_011520942.1:p.Leu1718Val
XM_017023615.1:c.5227C>G	XP_016879104.1:p.Leu1743Val
XM_017023616.1:c.5098C>G	XP_016879105.1:p.Leu1700Val
XM_017023617.1:c.5194C>G	XP_016879106.1:p.Leu1732Val
XM_017023618.1:c.3940C>G	XP_016879107.1:p.Leu1314Val
XM_024450413.1:c.5116C>G	XP_024306181.1:p.Leu1706Val
NM_000548.5:c.5230C>G MANE Select	NP_000539.2:p.Leu1744Val
NM_001370404.1:c.5098C>G	NP_001357333.1:p.Leu1700Val
NM_001370405.1:c.5089C>G	NP_001357334.1:p.Leu1697Val
NM_001077183.3:c.5029C>G	NP_001070651.1:p.Leu1677Val
NM_001114382.3:c.5161C>G	NP_001107854.1:p.Leu1721Val
NM_001318827.2:c.4921C>G	NP_001305756.1:p.Leu1641Val
NM_001318829.2:c.4885C>G	NP_001305758.1:p.Leu1629Val
NM_001318831.2:c.4498C>G	NP_001305760.1:p.Leu1500Val
NM_001318832.2:c.5062C>G	NP_001305761.1:p.Leu1688Val
NM_001363528.2:c.5032C>G	NP_001350457.1:p.Leu1678Val
NM_021055.3:c.5101C>G	NP_066399.2:p.Leu1701Val