Canonical Allele Identifier: CA2573151951

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1457412
• ClinVar RCV Id: RCV001953738
• dbSNP Id: rs2151576756

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086374_2086375dup , CM000678.2:g.2086374_2086375dup	GRCh38
NC_000016.9:g.2136375_2136376dup , CM000678.1:g.2136375_2136376dup	GRCh37
NC_000016.8:g.2076376_2076377dup	NCBI36
NG_005895.1:g.42069_42070dup , LRG_487:g.42069_42070dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3193_*3194dup	ENSP00000455997.2:n.*3193_*3194dup
ENST00000642206.2:c.4691_4692dup	ENSP00000495146.2:p.Gln1565CysfsTer10
ENST00000642365.2:c.4841_4842dup	ENSP00000495459.2:p.Gln1615CysfsTer10
ENST00000644417.2:c.*5357_*5358dup	ENSP00000493912.2:n.*5357_*5358dup
ENST00000646464.2:c.*7593_*7594dup	ENSP00000496610.2:n.*7593_*7594dup
ENST00000219476.9:c.4844_4845dup MANE Select	ENSP00000219476.3:p.Gln1616CysfsTer10
ENST00000350773.9:c.4775_4776dup	ENSP00000344383.4:p.Gln1593CysfsTer10
ENST00000401874.7:c.4643_4644dup	ENSP00000384468.2:p.Gln1549CysfsTer10
ENST00000568454.6:c.4676_4677dup	ENSP00000454487.1:p.Gln1560CysfsTer10
ENST00000569110.2:c.1067_1068dup
ENST00000569930.2:n.2726_2727dup
ENST00000642365.1:c.3498_3499dup
ENST00000642561.1:c.4715_4716dup	ENSP00000495099.1:p.Gln1573CysfsTer10
ENST00000642728.1:n.1026_1027dup
ENST00000642791.1:n.441_442dup
ENST00000642797.1:c.4646_4647dup	ENSP00000493846.1:p.Gln1550CysfsTer10
ENST00000642936.1:c.4712_4713dup	ENSP00000494514.1:p.Gln1572CysfsTer10
ENST00000643088.1:c.4637_4638dup	ENSP00000494747.1:p.Gln1547CysfsTer10
ENST00000643177.1:n.858_859dup
ENST00000643426.1:n.2492_2493dup
ENST00000643946.1:c.4769_4770dup	ENSP00000495927.1:p.Gln1591CysfsTer10
ENST00000644043.1:c.4715_4716dup	ENSP00000496262.1:p.Gln1573CysfsTer10
ENST00000644278.1:n.326_327dup
ENST00000644329.1:c.4643_4644dup	ENSP00000496611.1:p.Gln1549CysfsTer10
ENST00000644335.1:c.4640_4641dup	ENSP00000496317.1:p.Gln1548CysfsTer10
ENST00000644399.1:c.4765_4766dup
ENST00000645024.1:n.2928_2929dup
ENST00000646388.1:c.4838_4839dup	ENSP00000495921.1:p.Gln1614CysfsTer10
ENST00000646557.1:n.5_6dup
ENST00000646634.1:n.3659_3660dup
ENST00000646674.1:n.2096_2097dup
ENST00000647042.1:n.2067_2068dup
ENST00000647180.1:n.1957_1958dup
ENST00000219476.7:c.4844_4845dup	ENSP00000219476.3:p.Gln1616CysfsTer10
ENST00000350773.8:c.4775_4776dup	ENSP00000344383.4:p.Gln1593CysfsTer10
ENST00000382538.10:c.4499_4500dup	ENSP00000371978.6:p.Gln1501CysfsTer10
ENST00000401874.6:c.4643_4644dup	ENSP00000384468.2:p.Gln1549CysfsTer10
ENST00000439117.6:c.*4011_*4012dup	ENSP00000406980.2:n.*4011_*4012dup
ENST00000439673.6:c.4535_4536dup	ENSP00000399232.2:p.Gln1513CysfsTer10
ENST00000497886.5:n.2602_2603dup
ENST00000568454.5:c.4676_4677dup	ENSP00000454487.1:p.Gln1560CysfsTer10
ENST00000569110.1:c.1026_1027dup
ENST00000569930.1:n.1959_1960dup
NM_000548.3:c.4844_4845dup , LRG_487t1:c.4844_4845dup	NP_000539.2:p.Gln1616CysfsTer10
NM_001077183.1:c.4643_4644dup	NP_001070651.1:p.Gln1549CysfsTer10
NM_001114382.1:c.4775_4776dup	NP_001107854.1:p.Gln1593CysfsTer10
XM_005255529.3:c.4715_4716dup	XP_005255586.2:p.Gln1573CysfsTer10
XM_005255531.3:c.4646_4647dup	XP_005255588.2:p.Gln1550CysfsTer10
XM_011522636.1:c.4898_4899dup	XP_011520938.1:p.Gln1634CysfsTer10
XM_011522637.1:c.4895_4896dup	XP_011520939.1:p.Gln1633CysfsTer10
XM_011522638.1:c.4787_4788dup	XP_011520940.1:p.Gln1597CysfsTer10
XM_011522639.1:c.4769_4770dup	XP_011520941.1:p.Gln1591CysfsTer10
XM_011522640.1:c.4766_4767dup	XP_011520942.1:p.Gln1590CysfsTer10
XM_011522641.1:c.4535_4536dup	XP_011520943.1:p.Gln1513CysfsTer10
NM_000548.4:c.4844_4845dup	NP_000539.2:p.Gln1616CysfsTer10
NM_001077183.2:c.4643_4644dup	NP_001070651.1:p.Gln1549CysfsTer10
NM_001114382.2:c.4775_4776dup	NP_001107854.1:p.Gln1593CysfsTer10
NM_001318827.1:c.4535_4536dup	NP_001305756.1:p.Gln1513CysfsTer10
NM_001318829.1:c.4499_4500dup	NP_001305758.1:p.Gln1501CysfsTer10
NM_001318831.1:c.4112_4113dup	NP_001305760.1:p.Gln1372CysfsTer10
NM_001318832.1:c.4676_4677dup	NP_001305761.1:p.Gln1560CysfsTer10
NM_001363528.1:c.4646_4647dup	NP_001350457.1:p.Gln1550CysfsTer10
NM_021055.2:c.4715_4716dup	NP_066399.2:p.Gln1573CysfsTer10
XM_005255531.4:c.4646_4647dup	XP_005255588.2:p.Gln1550CysfsTer10
XM_011522636.2:c.4898_4899dup	XP_011520938.1:p.Gln1634CysfsTer10
XM_011522637.2:c.4895_4896dup	XP_011520939.1:p.Gln1633CysfsTer10
XM_011522638.2:c.5060_5061dup	XP_011520940.2:p.Gln1688CysfsTer10
XM_011522639.2:c.4769_4770dup	XP_011520941.1:p.Gln1591CysfsTer10
XM_011522640.2:c.4766_4767dup	XP_011520942.1:p.Gln1590CysfsTer10
XM_017023615.1:c.4841_4842dup	XP_016879104.1:p.Gln1615CysfsTer10
XM_017023616.1:c.4712_4713dup	XP_016879105.1:p.Gln1572CysfsTer10
XM_017023617.1:c.4808_4809dup	XP_016879106.1:p.Gln1604CysfsTer10
XM_017023618.1:c.3554_3555dup	XP_016879107.1:p.Gln1186CysfsTer10
XM_024450413.1:c.4643_4644dup	XP_024306181.1:p.Gln1549CysfsTer10
NM_000548.5:c.4844_4845dup MANE Select	NP_000539.2:p.Gln1616CysfsTer10
NM_001370404.1:c.4712_4713dup	NP_001357333.1:p.Gln1572CysfsTer10
NM_001370405.1:c.4715_4716dup	NP_001357334.1:p.Gln1573CysfsTer10
NM_001077183.3:c.4643_4644dup	NP_001070651.1:p.Gln1549CysfsTer10
NM_001114382.3:c.4775_4776dup	NP_001107854.1:p.Gln1593CysfsTer10
NM_001318827.2:c.4535_4536dup	NP_001305756.1:p.Gln1513CysfsTer10
NM_001318829.2:c.4499_4500dup	NP_001305758.1:p.Gln1501CysfsTer10
NM_001318831.2:c.4112_4113dup	NP_001305760.1:p.Gln1372CysfsTer10
NM_001318832.2:c.4676_4677dup	NP_001305761.1:p.Gln1560CysfsTer10
NM_001363528.2:c.4646_4647dup	NP_001350457.1:p.Gln1550CysfsTer10
NM_021055.3:c.4715_4716dup	NP_066399.2:p.Gln1573CysfsTer10