Canonical Allele Identifier: CA394315357

Gene: TSC2

Linked Data

• gnomAD v4: 16-2088488-G-T
• MyVariant Identifiers: chr16:g.2138489G>T (hg19) ; chr16:g.2088488G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088488G>T , CM000678.2:g.2088488G>T	GRCh38
NC_000016.9:g.2138489G>T , CM000678.1:g.2138489G>T	GRCh37
NC_000016.8:g.2078490G>T	NCBI36
NG_005895.1:g.44183G>T , LRG_487:g.44183G>T
NG_008617.1:g.54733C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3651G>T	ENSP00000455997.2:n.*3651G>T
ENST00000642206.2:c.5149G>T	ENSP00000495146.2:p.Val1717Leu
ENST00000642365.2:c.5299G>T	ENSP00000495459.2:p.Val1767Leu
ENST00000644417.2:c.*5815G>T	ENSP00000493912.2:n.*5815G>T
ENST00000646464.2:c.*8051G>T	ENSP00000496610.2:n.*8051G>T
ENST00000219476.9:c.5302G>T MANE Select	ENSP00000219476.3:p.Val1768Leu
ENST00000350773.9:c.5233G>T	ENSP00000344383.4:p.Val1745Leu
ENST00000401874.7:c.5101G>T	ENSP00000384468.2:p.Val1701Leu
ENST00000568454.6:c.5134G>T	ENSP00000454487.1:p.Val1712Leu
ENST00000569110.2:c.1525G>T
ENST00000569930.2:n.3184G>T
ENST00000642365.1:c.3956G>T
ENST00000642561.1:c.5161G>T	ENSP00000495099.1:p.Val1721Leu
ENST00000642791.1:n.899G>T
ENST00000642797.1:c.5104G>T	ENSP00000493846.1:p.Val1702Leu
ENST00000642936.1:c.5170G>T	ENSP00000494514.1:p.Val1724Leu
ENST00000643088.1:c.5095G>T	ENSP00000494747.1:p.Val1699Leu
ENST00000643426.1:n.2950G>T
ENST00000643946.1:c.5227G>T	ENSP00000495927.1:p.Val1743Leu
ENST00000644043.1:c.5173G>T	ENSP00000496262.1:p.Val1725Leu
ENST00000644329.1:c.5188G>T	ENSP00000496611.1:p.Val1730Leu
ENST00000644335.1:c.5098G>T	ENSP00000496317.1:p.Val1700Leu
ENST00000644399.1:c.5223G>T
ENST00000645024.1:n.3386G>T
ENST00000646388.1:c.5296G>T	ENSP00000495921.1:p.Val1766Leu
ENST00000646634.1:n.4117G>T
ENST00000646674.1:n.2554G>T
ENST00000647042.1:n.2525G>T
ENST00000647180.1:n.2415G>T
ENST00000219476.7:c.5302G>T	ENSP00000219476.3:p.Val1768Leu
ENST00000350773.8:c.5233G>T	ENSP00000344383.4:p.Val1745Leu
ENST00000382538.10:c.4957G>T	ENSP00000371978.6:p.Val1653Leu
ENST00000401874.6:c.5101G>T	ENSP00000384468.2:p.Val1701Leu
ENST00000439117.6:c.*4469G>T	ENSP00000406980.2:n.*4469G>T
ENST00000439673.6:c.4993G>T	ENSP00000399232.2:p.Val1665Leu
ENST00000497886.5:n.3025G>T
ENST00000568454.5:c.5134G>T	ENSP00000454487.1:p.Val1712Leu
ENST00000569110.1:c.1484G>T
ENST00000569930.1:n.2417G>T
NM_000548.3:c.5302G>T , LRG_487t1:c.5302G>T	NP_000539.2:p.Val1768Leu
NM_001077183.1:c.5101G>T	NP_001070651.1:p.Val1701Leu
NM_001114382.1:c.5233G>T	NP_001107854.1:p.Val1745Leu
XM_005255529.3:c.5173G>T	XP_005255586.2:p.Val1725Leu
XM_005255531.3:c.5104G>T	XP_005255588.2:p.Val1702Leu
XM_011522636.1:c.5356G>T	XP_011520938.1:p.Val1786Leu
XM_011522637.1:c.5353G>T	XP_011520939.1:p.Val1785Leu
XM_011522638.1:c.5245G>T	XP_011520940.1:p.Val1749Leu
XM_011522639.1:c.5227G>T	XP_011520941.1:p.Val1743Leu
XM_011522640.1:c.5224G>T	XP_011520942.1:p.Val1742Leu
XM_011522641.1:c.4993G>T	XP_011520943.1:p.Val1665Leu
NM_000548.4:c.5302G>T	NP_000539.2:p.Val1768Leu
NM_001077183.2:c.5101G>T	NP_001070651.1:p.Val1701Leu
NM_001114382.2:c.5233G>T	NP_001107854.1:p.Val1745Leu
NM_001318827.1:c.4993G>T	NP_001305756.1:p.Val1665Leu
NM_001318829.1:c.4957G>T	NP_001305758.1:p.Val1653Leu
NM_001318831.1:c.4570G>T	NP_001305760.1:p.Val1524Leu
NM_001318832.1:c.5134G>T	NP_001305761.1:p.Val1712Leu
NM_001363528.1:c.5104G>T	NP_001350457.1:p.Val1702Leu
NM_021055.2:c.5173G>T	NP_066399.2:p.Val1725Leu
XM_005255531.4:c.5104G>T	XP_005255588.2:p.Val1702Leu
XM_011522636.2:c.5356G>T	XP_011520938.1:p.Val1786Leu
XM_011522637.2:c.5353G>T	XP_011520939.1:p.Val1785Leu
XM_011522638.2:c.5518G>T	XP_011520940.2:p.Val1840Leu
XM_011522639.2:c.5227G>T	XP_011520941.1:p.Val1743Leu
XM_011522640.2:c.5224G>T	XP_011520942.1:p.Val1742Leu
XM_017023615.1:c.5299G>T	XP_016879104.1:p.Val1767Leu
XM_017023616.1:c.5170G>T	XP_016879105.1:p.Val1724Leu
XM_017023617.1:c.5266G>T	XP_016879106.1:p.Val1756Leu
XM_017023618.1:c.4012G>T	XP_016879107.1:p.Val1338Leu
XM_024450413.1:c.5188G>T	XP_024306181.1:p.Val1730Leu
NM_000548.5:c.5302G>T MANE Select	NP_000539.2:p.Val1768Leu
NM_001370404.1:c.5170G>T	NP_001357333.1:p.Val1724Leu
NM_001370405.1:c.5161G>T	NP_001357334.1:p.Val1721Leu
NM_001077183.3:c.5101G>T	NP_001070651.1:p.Val1701Leu
NM_001114382.3:c.5233G>T	NP_001107854.1:p.Val1745Leu
NM_001318827.2:c.4993G>T	NP_001305756.1:p.Val1665Leu
NM_001318829.2:c.4957G>T	NP_001305758.1:p.Val1653Leu
NM_001318831.2:c.4570G>T	NP_001305760.1:p.Val1524Leu
NM_001318832.2:c.5134G>T	NP_001305761.1:p.Val1712Leu
NM_001363528.2:c.5104G>T	NP_001350457.1:p.Val1702Leu
NM_021055.3:c.5173G>T	NP_066399.2:p.Val1725Leu