Canonical Allele Identifier: CA394302174

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2134646G>T (hg19) ; chr16:g.2084645G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084645G>T , CM000678.2:g.2084645G>T	GRCh38
NC_000016.9:g.2134646G>T , CM000678.1:g.2134646G>T	GRCh37
NC_000016.8:g.2074647G>T	NCBI36
NG_005895.1:g.40340G>T , LRG_487:g.40340G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2772G>T	ENSP00000455997.2:n.*2772G>T
ENST00000642206.2:c.4270G>T	ENSP00000495146.2:p.Val1424Leu
ENST00000642365.2:c.4420G>T	ENSP00000495459.2:p.Val1474Leu
ENST00000644417.2:c.*4803G>T	ENSP00000493912.2:n.*4803G>T
ENST00000646464.2:c.*7172G>T	ENSP00000496610.2:n.*7172G>T
ENST00000219476.9:c.4423G>T MANE Select	ENSP00000219476.3:p.Val1475Leu
ENST00000350773.9:c.4354G>T	ENSP00000344383.4:p.Val1452Leu
ENST00000401874.7:c.4222G>T	ENSP00000384468.2:p.Val1408Leu
ENST00000568454.6:c.4255G>T	ENSP00000454487.1:p.Val1419Leu
ENST00000569110.2:c.659G>T
ENST00000569930.2:n.2305G>T
ENST00000642365.1:c.3077G>T
ENST00000642561.1:c.4294G>T	ENSP00000495099.1:p.Val1432Leu
ENST00000642728.1:n.605G>T
ENST00000642797.1:c.4225G>T	ENSP00000493846.1:p.Val1409Leu
ENST00000642936.1:c.4291G>T	ENSP00000494514.1:p.Val1431Leu
ENST00000643088.1:c.4222G>T	ENSP00000494747.1:p.Val1408Leu
ENST00000643177.1:n.437G>T
ENST00000643426.1:n.2071G>T
ENST00000643946.1:c.4354G>T	ENSP00000495927.1:p.Val1452Leu
ENST00000644043.1:c.4294G>T	ENSP00000496262.1:p.Val1432Leu
ENST00000644329.1:c.4222G>T	ENSP00000496611.1:p.Val1408Leu
ENST00000644335.1:c.4225G>T	ENSP00000496317.1:p.Val1409Leu
ENST00000644399.1:c.4344G>T
ENST00000645024.1:n.2507G>T
ENST00000646388.1:c.4423G>T	ENSP00000495921.1:p.Val1475Leu
ENST00000646634.1:n.3238G>T
ENST00000646674.1:n.1675G>T
ENST00000647042.1:n.1646G>T
ENST00000647180.1:n.1536G>T
ENST00000219476.7:c.4423G>T	ENSP00000219476.3:p.Val1475Leu
ENST00000350773.8:c.4354G>T	ENSP00000344383.4:p.Val1452Leu
ENST00000382538.10:c.4078G>T	ENSP00000371978.6:p.Val1360Leu
ENST00000401874.6:c.4222G>T	ENSP00000384468.2:p.Val1408Leu
ENST00000439117.6:c.*3590G>T	ENSP00000406980.2:n.*3590G>T
ENST00000439673.6:c.4114G>T	ENSP00000399232.2:p.Val1372Leu
ENST00000497886.5:n.2181G>T
ENST00000568454.5:c.4255G>T	ENSP00000454487.1:p.Val1419Leu
ENST00000569110.1:c.605G>T
ENST00000569930.1:n.1538G>T
NM_000548.3:c.4423G>T , LRG_487t1:c.4423G>T	NP_000539.2:p.Val1475Leu
NM_001077183.1:c.4222G>T	NP_001070651.1:p.Val1408Leu
NM_001114382.1:c.4354G>T	NP_001107854.1:p.Val1452Leu
XM_005255529.3:c.4294G>T	XP_005255586.2:p.Val1432Leu
XM_005255531.3:c.4225G>T	XP_005255588.2:p.Val1409Leu
XM_011522636.1:c.4477G>T	XP_011520938.1:p.Val1493Leu
XM_011522637.1:c.4474G>T	XP_011520939.1:p.Val1492Leu
XM_011522638.1:c.4366G>T	XP_011520940.1:p.Val1456Leu
XM_011522639.1:c.4348G>T	XP_011520941.1:p.Val1450Leu
XM_011522640.1:c.4345G>T	XP_011520942.1:p.Val1449Leu
XM_011522641.1:c.4114G>T	XP_011520943.1:p.Val1372Leu
NM_000548.4:c.4423G>T	NP_000539.2:p.Val1475Leu
NM_001077183.2:c.4222G>T	NP_001070651.1:p.Val1408Leu
NM_001114382.2:c.4354G>T	NP_001107854.1:p.Val1452Leu
NM_001318827.1:c.4114G>T	NP_001305756.1:p.Val1372Leu
NM_001318829.1:c.4078G>T	NP_001305758.1:p.Val1360Leu
NM_001318831.1:c.3691G>T	NP_001305760.1:p.Val1231Leu
NM_001318832.1:c.4255G>T	NP_001305761.1:p.Val1419Leu
NM_001363528.1:c.4225G>T	NP_001350457.1:p.Val1409Leu
NM_021055.2:c.4294G>T	NP_066399.2:p.Val1432Leu
XM_005255531.4:c.4225G>T	XP_005255588.2:p.Val1409Leu
XM_011522636.2:c.4477G>T	XP_011520938.1:p.Val1493Leu
XM_011522637.2:c.4474G>T	XP_011520939.1:p.Val1492Leu
XM_011522638.2:c.4639G>T	XP_011520940.2:p.Val1547Leu
XM_011522639.2:c.4348G>T	XP_011520941.1:p.Val1450Leu
XM_011522640.2:c.4345G>T	XP_011520942.1:p.Val1449Leu
XM_017023615.1:c.4420G>T	XP_016879104.1:p.Val1474Leu
XM_017023616.1:c.4291G>T	XP_016879105.1:p.Val1431Leu
XM_017023617.1:c.4387G>T	XP_016879106.1:p.Val1463Leu
XM_017023618.1:c.3133G>T	XP_016879107.1:p.Val1045Leu
XM_024450413.1:c.4222G>T	XP_024306181.1:p.Val1408Leu
NM_000548.5:c.4423G>T MANE Select	NP_000539.2:p.Val1475Leu
NM_001370404.1:c.4291G>T	NP_001357333.1:p.Val1431Leu
NM_001370405.1:c.4294G>T	NP_001357334.1:p.Val1432Leu
NM_001077183.3:c.4222G>T	NP_001070651.1:p.Val1408Leu
NM_001114382.3:c.4354G>T	NP_001107854.1:p.Val1452Leu
NM_001318827.2:c.4114G>T	NP_001305756.1:p.Val1372Leu
NM_001318829.2:c.4078G>T	NP_001305758.1:p.Val1360Leu
NM_001318831.2:c.3691G>T	NP_001305760.1:p.Val1231Leu
NM_001318832.2:c.4255G>T	NP_001305761.1:p.Val1419Leu
NM_001363528.2:c.4225G>T	NP_001350457.1:p.Val1409Leu
NM_021055.3:c.4294G>T	NP_066399.2:p.Val1432Leu