Canonical Allele Identifier: CA2631137292

Gene: TSC2

Linked Data

• gnomAD v4: 16-2071652-G-GGGCGTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2071654_2071660dup , CM000678.2:g.2071654_2071660dup	GRCh38
NC_000016.9:g.2121655_2121661dup , CM000678.1:g.2121655_2121661dup	GRCh37
NC_000016.8:g.2061656_2061662dup	NCBI36
NG_005895.1:g.27349_27355dup , LRG_487:g.27349_27355dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*493+38_*493+44dup	ENSP00000455997.2:n.*493+38_*493+44dup
ENST00000642206.2:c.1991+38_1991+44dup	ENSP00000495146.2:n.1991+38_1991+44dup
ENST00000642365.2:c.1946+38_1946+44dup	ENSP00000495459.2:n.1946+38_1946+44dup
ENST00000644417.2:c.*1383+38_*1383+44dup	ENSP00000493912.2:n.*1383+38_*1383+44dup
ENST00000646464.2:c.*1551+38_*1551+44dup	ENSP00000496610.2:n.*1551+38_*1551+44dup
ENST00000219476.9:c.1946+38_1946+44dup MANE Select	ENSP00000219476.3:n.1946+38_1946+44dup
ENST00000350773.9:c.1946+38_1946+44dup	ENSP00000344383.4:n.1946+38_1946+44dup
ENST00000401874.7:c.1946+38_1946+44dup	ENSP00000384468.2:n.1946+38_1946+44dup
ENST00000568454.6:c.1979+38_1979+44dup	ENSP00000454487.1:n.1979+38_1979+44dup
ENST00000642365.1:c.603+38_603+44dup
ENST00000642561.1:c.1946+38_1946+44dup	ENSP00000495099.1:n.1946+38_1946+44dup
ENST00000642797.1:c.1946+38_1946+44dup	ENSP00000493846.1:n.1946+38_1946+44dup
ENST00000642936.1:c.1946+38_1946+44dup	ENSP00000494514.1:n.1946+38_1946+44dup
ENST00000643088.1:c.1946+38_1946+44dup	ENSP00000494747.1:n.1946+38_1946+44dup
ENST00000643298.1:c.*1448+38_*1448+44dup	ENSP00000494393.1:n.*1448+38_*1448+44dup
ENST00000643946.1:c.1946+38_1946+44dup	ENSP00000495927.1:n.1946+38_1946+44dup
ENST00000644043.1:c.1946+38_1946+44dup	ENSP00000496262.1:n.1946+38_1946+44dup
ENST00000644329.1:c.1946+38_1946+44dup	ENSP00000496611.1:n.1946+38_1946+44dup
ENST00000644335.1:c.1946+38_1946+44dup	ENSP00000496317.1:n.1946+38_1946+44dup
ENST00000644399.1:c.1939+38_1939+44dup
ENST00000644847.1:n.938+38_938+44dup
ENST00000645024.1:n.228+38_228+44dup
ENST00000645552.1:n.226+38_226+44dup
ENST00000646388.1:c.1946+38_1946+44dup	ENSP00000495921.1:n.1946+38_1946+44dup
ENST00000646634.1:n.959+38_959+44dup
ENST00000219476.7:c.1946+38_1946+44dup	ENSP00000219476.3:n.1946+38_1946+44dup
ENST00000350773.8:c.1946+38_1946+44dup	ENSP00000344383.4:n.1946+38_1946+44dup
ENST00000382538.10:c.1799+38_1799+44dup	ENSP00000371978.6:n.1799+38_1799+44dup
ENST00000401874.6:c.1946+38_1946+44dup	ENSP00000384468.2:n.1946+38_1946+44dup
ENST00000439117.6:c.*1245+38_*1245+44dup	ENSP00000406980.2:n.*1245+38_*1245+44dup
ENST00000439673.6:c.1835+38_1835+44dup	ENSP00000399232.2:n.1835+38_1835+44dup
ENST00000488675.5:n.453+38_453+44dup
ENST00000568454.5:c.1979+38_1979+44dup	ENSP00000454487.1:n.1979+38_1979+44dup
NM_000548.3:c.1946+38_1946+44dup , LRG_487t1:c.1946+38_1946+44dup	NP_000539.2:n.1946+38_1946+44dup
NM_001077183.1:c.1946+38_1946+44dup	NP_001070651.1:n.1946+38_1946+44dup
NM_001114382.1:c.1946+38_1946+44dup	NP_001107854.1:n.1946+38_1946+44dup
XM_005255529.3:c.1946+38_1946+44dup	XP_005255586.2:n.1946+38_1946+44dup
XM_005255531.3:c.1946+38_1946+44dup	XP_005255588.2:n.1946+38_1946+44dup
XM_011522636.1:c.1946+38_1946+44dup	XP_011520938.1:n.1946+38_1946+44dup
XM_011522637.1:c.1946+38_1946+44dup	XP_011520939.1:n.1946+38_1946+44dup
XM_011522638.1:c.1835+38_1835+44dup	XP_011520940.1:n.1835+38_1835+44dup
XM_011522639.1:c.1946+38_1946+44dup	XP_011520941.1:n.1946+38_1946+44dup
XM_011522640.1:c.1946+38_1946+44dup	XP_011520942.1:n.1946+38_1946+44dup
XM_011522641.1:c.1835+38_1835+44dup	XP_011520943.1:n.1835+38_1835+44dup
NM_000548.4:c.1946+38_1946+44dup	NP_000539.2:n.1946+38_1946+44dup
NM_001077183.2:c.1946+38_1946+44dup	NP_001070651.1:n.1946+38_1946+44dup
NM_001114382.2:c.1946+38_1946+44dup	NP_001107854.1:n.1946+38_1946+44dup
NM_001318827.1:c.1835+38_1835+44dup	NP_001305756.1:n.1835+38_1835+44dup
NM_001318829.1:c.1799+38_1799+44dup	NP_001305758.1:n.1799+38_1799+44dup
NM_001318831.1:c.1346+38_1346+44dup	NP_001305760.1:n.1346+38_1346+44dup
NM_001318832.1:c.1979+38_1979+44dup	NP_001305761.1:n.1979+38_1979+44dup
NM_001363528.1:c.1946+38_1946+44dup	NP_001350457.1:n.1946+38_1946+44dup
NM_021055.2:c.1946+38_1946+44dup	NP_066399.2:n.1946+38_1946+44dup
XM_005255531.4:c.1946+38_1946+44dup	XP_005255588.2:n.1946+38_1946+44dup
XM_011522636.2:c.1946+38_1946+44dup	XP_011520938.1:n.1946+38_1946+44dup
XM_011522637.2:c.1946+38_1946+44dup	XP_011520939.1:n.1946+38_1946+44dup
XM_011522638.2:c.2108+38_2108+44dup	XP_011520940.2:n.2108+38_2108+44dup
XM_011522639.2:c.1946+38_1946+44dup	XP_011520941.1:n.1946+38_1946+44dup
XM_011522640.2:c.1946+38_1946+44dup	XP_011520942.1:n.1946+38_1946+44dup
XM_017023615.1:c.1946+38_1946+44dup	XP_016879104.1:n.1946+38_1946+44dup
XM_017023616.1:c.1946+38_1946+44dup	XP_016879105.1:n.1946+38_1946+44dup
XM_017023617.1:c.2108+38_2108+44dup	XP_016879106.1:n.2108+38_2108+44dup
XM_017023618.1:c.602+38_602+44dup	XP_016879107.1:n.602+38_602+44dup
XM_024450413.1:c.1946+38_1946+44dup	XP_024306181.1:n.1946+38_1946+44dup
NM_000548.5:c.1946+38_1946+44dup MANE Select	NP_000539.2:n.1946+38_1946+44dup
NM_001370404.1:c.1946+38_1946+44dup	NP_001357333.1:n.1946+38_1946+44dup
NM_001370405.1:c.1946+38_1946+44dup	NP_001357334.1:n.1946+38_1946+44dup
NM_001077183.3:c.1946+38_1946+44dup	NP_001070651.1:n.1946+38_1946+44dup
NM_001114382.3:c.1946+38_1946+44dup	NP_001107854.1:n.1946+38_1946+44dup
NM_001318827.2:c.1835+38_1835+44dup	NP_001305756.1:n.1835+38_1835+44dup
NM_001318829.2:c.1799+38_1799+44dup	NP_001305758.1:n.1799+38_1799+44dup
NM_001318831.2:c.1346+38_1346+44dup	NP_001305760.1:n.1346+38_1346+44dup
NM_001318832.2:c.1979+38_1979+44dup	NP_001305761.1:n.1979+38_1979+44dup
NM_001363528.2:c.1946+38_1946+44dup	NP_001350457.1:n.1946+38_1946+44dup
NM_021055.3:c.1946+38_1946+44dup	NP_066399.2:n.1946+38_1946+44dup