Canonical Allele Identifier: CA394304966

Gene: TSC2

Linked Data

• dbSNP Id: rs769883910
• MyVariant Identifiers: chr16:g.2135303C>G (hg19) ; chr16:g.2085302C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085302C>G , CM000678.2:g.2085302C>G	GRCh38
NC_000016.9:g.2135303C>G , CM000678.1:g.2135303C>G	GRCh37
NC_000016.8:g.2075304C>G	NCBI36
NG_005895.1:g.40997C>G , LRG_487:g.40997C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2991C>G	ENSP00000455997.2:n.*2991C>G
ENST00000642206.2:c.4489C>G	ENSP00000495146.2:p.Leu1497Val
ENST00000642365.2:c.4639C>G	ENSP00000495459.2:p.Leu1547Val
ENST00000644417.2:c.*5022C>G	ENSP00000493912.2:n.*5022C>G
ENST00000646464.2:c.*7391C>G	ENSP00000496610.2:n.*7391C>G
ENST00000219476.9:c.4642C>G MANE Select	ENSP00000219476.3:p.Leu1548Val
ENST00000350773.9:c.4573C>G	ENSP00000344383.4:p.Leu1525Val
ENST00000401874.7:c.4441C>G	ENSP00000384468.2:p.Leu1481Val
ENST00000568454.6:c.4474C>G	ENSP00000454487.1:p.Leu1492Val
ENST00000569110.2:c.865C>G
ENST00000569930.2:n.2524C>G
ENST00000642365.1:c.3296C>G
ENST00000642561.1:c.4513C>G	ENSP00000495099.1:p.Leu1505Val
ENST00000642728.1:n.824C>G
ENST00000642791.1:n.239C>G
ENST00000642797.1:c.4444C>G	ENSP00000493846.1:p.Leu1482Val
ENST00000642936.1:c.4510C>G	ENSP00000494514.1:p.Leu1504Val
ENST00000643088.1:c.4435C>G	ENSP00000494747.1:p.Leu1479Val
ENST00000643177.1:n.656C>G
ENST00000643426.1:n.2290C>G
ENST00000643946.1:c.4567C>G	ENSP00000495927.1:p.Leu1523Val
ENST00000644043.1:c.4513C>G	ENSP00000496262.1:p.Leu1505Val
ENST00000644278.1:n.124C>G
ENST00000644329.1:c.4441C>G	ENSP00000496611.1:p.Leu1481Val
ENST00000644335.1:c.4438C>G	ENSP00000496317.1:p.Leu1480Val
ENST00000644399.1:c.4563C>G
ENST00000645024.1:n.2726C>G
ENST00000646388.1:c.4636C>G	ENSP00000495921.1:p.Leu1546Val
ENST00000646634.1:n.3457C>G
ENST00000646674.1:n.1894C>G
ENST00000647042.1:n.1865C>G
ENST00000647180.1:n.1755C>G
ENST00000219476.7:c.4642C>G	ENSP00000219476.3:p.Leu1548Val
ENST00000350773.8:c.4573C>G	ENSP00000344383.4:p.Leu1525Val
ENST00000382538.10:c.4297C>G	ENSP00000371978.6:p.Leu1433Val
ENST00000401874.6:c.4441C>G	ENSP00000384468.2:p.Leu1481Val
ENST00000439117.6:c.*3809C>G	ENSP00000406980.2:n.*3809C>G
ENST00000439673.6:c.4333C>G	ENSP00000399232.2:p.Leu1445Val
ENST00000497886.5:n.2400C>G
ENST00000568454.5:c.4474C>G	ENSP00000454487.1:p.Leu1492Val
ENST00000569110.1:c.824C>G
ENST00000569930.1:n.1757C>G
NM_000548.3:c.4642C>G , LRG_487t1:c.4642C>G	NP_000539.2:p.Leu1548Val
NM_001077183.1:c.4441C>G	NP_001070651.1:p.Leu1481Val
NM_001114382.1:c.4573C>G	NP_001107854.1:p.Leu1525Val
XM_005255529.3:c.4513C>G	XP_005255586.2:p.Leu1505Val
XM_005255531.3:c.4444C>G	XP_005255588.2:p.Leu1482Val
XM_011522636.1:c.4696C>G	XP_011520938.1:p.Leu1566Val
XM_011522637.1:c.4693C>G	XP_011520939.1:p.Leu1565Val
XM_011522638.1:c.4585C>G	XP_011520940.1:p.Leu1529Val
XM_011522639.1:c.4567C>G	XP_011520941.1:p.Leu1523Val
XM_011522640.1:c.4564C>G	XP_011520942.1:p.Leu1522Val
XM_011522641.1:c.4333C>G	XP_011520943.1:p.Leu1445Val
NM_000548.4:c.4642C>G	NP_000539.2:p.Leu1548Val
NM_001077183.2:c.4441C>G	NP_001070651.1:p.Leu1481Val
NM_001114382.2:c.4573C>G	NP_001107854.1:p.Leu1525Val
NM_001318827.1:c.4333C>G	NP_001305756.1:p.Leu1445Val
NM_001318829.1:c.4297C>G	NP_001305758.1:p.Leu1433Val
NM_001318831.1:c.3910C>G	NP_001305760.1:p.Leu1304Val
NM_001318832.1:c.4474C>G	NP_001305761.1:p.Leu1492Val
NM_001363528.1:c.4444C>G	NP_001350457.1:p.Leu1482Val
NM_021055.2:c.4513C>G	NP_066399.2:p.Leu1505Val
XM_005255531.4:c.4444C>G	XP_005255588.2:p.Leu1482Val
XM_011522636.2:c.4696C>G	XP_011520938.1:p.Leu1566Val
XM_011522637.2:c.4693C>G	XP_011520939.1:p.Leu1565Val
XM_011522638.2:c.4858C>G	XP_011520940.2:p.Leu1620Val
XM_011522639.2:c.4567C>G	XP_011520941.1:p.Leu1523Val
XM_011522640.2:c.4564C>G	XP_011520942.1:p.Leu1522Val
XM_017023615.1:c.4639C>G	XP_016879104.1:p.Leu1547Val
XM_017023616.1:c.4510C>G	XP_016879105.1:p.Leu1504Val
XM_017023617.1:c.4606C>G	XP_016879106.1:p.Leu1536Val
XM_017023618.1:c.3352C>G	XP_016879107.1:p.Leu1118Val
XM_024450413.1:c.4441C>G	XP_024306181.1:p.Leu1481Val
NM_000548.5:c.4642C>G MANE Select	NP_000539.2:p.Leu1548Val
NM_001370404.1:c.4510C>G	NP_001357333.1:p.Leu1504Val
NM_001370405.1:c.4513C>G	NP_001357334.1:p.Leu1505Val
NM_001077183.3:c.4441C>G	NP_001070651.1:p.Leu1481Val
NM_001114382.3:c.4573C>G	NP_001107854.1:p.Leu1525Val
NM_001318827.2:c.4333C>G	NP_001305756.1:p.Leu1445Val
NM_001318829.2:c.4297C>G	NP_001305758.1:p.Leu1433Val
NM_001318831.2:c.3910C>G	NP_001305760.1:p.Leu1304Val
NM_001318832.2:c.4474C>G	NP_001305761.1:p.Leu1492Val
NM_001363528.2:c.4444C>G	NP_001350457.1:p.Leu1482Val
NM_021055.3:c.4513C>G	NP_066399.2:p.Leu1505Val