Canonical Allele Identifier: CA394300056

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2134442G>T (hg19) ; chr16:g.2084441G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084441G>T , CM000678.2:g.2084441G>T	GRCh38
NC_000016.9:g.2134442G>T , CM000678.1:g.2134442G>T	GRCh37
NC_000016.8:g.2074443G>T	NCBI36
NG_005895.1:g.40136G>T , LRG_487:g.40136G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2568G>T	ENSP00000455997.2:n.*2568G>T
ENST00000642206.2:c.4066G>T	ENSP00000495146.2:p.Val1356Leu
ENST00000642365.2:c.4216G>T	ENSP00000495459.2:p.Val1406Leu
ENST00000644417.2:c.*4599G>T	ENSP00000493912.2:n.*4599G>T
ENST00000646464.2:c.*6968G>T	ENSP00000496610.2:n.*6968G>T
ENST00000219476.9:c.4219G>T MANE Select	ENSP00000219476.3:p.Val1407Leu
ENST00000350773.9:c.4150G>T	ENSP00000344383.4:p.Val1384Leu
ENST00000401874.7:c.4018G>T	ENSP00000384468.2:p.Val1340Leu
ENST00000568454.6:c.4051G>T	ENSP00000454487.1:p.Val1351Leu
ENST00000569110.2:c.455G>T
ENST00000569930.2:n.2101G>T
ENST00000642365.1:c.2873G>T
ENST00000642561.1:c.4090G>T	ENSP00000495099.1:p.Val1364Leu
ENST00000642728.1:n.401G>T
ENST00000642797.1:c.4021G>T	ENSP00000493846.1:p.Val1341Leu
ENST00000642936.1:c.4087G>T	ENSP00000494514.1:p.Val1363Leu
ENST00000643088.1:c.4018G>T	ENSP00000494747.1:p.Val1340Leu
ENST00000643177.1:n.233G>T
ENST00000643426.1:n.1867G>T
ENST00000643946.1:c.4150G>T	ENSP00000495927.1:p.Val1384Leu
ENST00000644043.1:c.4090G>T	ENSP00000496262.1:p.Val1364Leu
ENST00000644329.1:c.4018G>T	ENSP00000496611.1:p.Val1340Leu
ENST00000644335.1:c.4021G>T	ENSP00000496317.1:p.Val1341Leu
ENST00000644399.1:c.4140G>T
ENST00000645024.1:n.2303G>T
ENST00000645186.1:c.462G>T
ENST00000646388.1:c.4219G>T	ENSP00000495921.1:p.Val1407Leu
ENST00000646634.1:n.3034G>T
ENST00000646674.1:n.1471G>T
ENST00000647042.1:n.1442G>T
ENST00000647180.1:n.1332G>T
ENST00000219476.7:c.4219G>T	ENSP00000219476.3:p.Val1407Leu
ENST00000350773.8:c.4150G>T	ENSP00000344383.4:p.Val1384Leu
ENST00000382538.10:c.3874G>T	ENSP00000371978.6:p.Val1292Leu
ENST00000401874.6:c.4018G>T	ENSP00000384468.2:p.Val1340Leu
ENST00000439117.6:c.*3386G>T	ENSP00000406980.2:n.*3386G>T
ENST00000439673.6:c.3910G>T	ENSP00000399232.2:p.Val1304Leu
ENST00000497886.5:n.1977G>T
ENST00000568454.5:c.4051G>T	ENSP00000454487.1:p.Val1351Leu
ENST00000569110.1:c.401G>T
ENST00000569930.1:n.1334G>T
NM_000548.3:c.4219G>T , LRG_487t1:c.4219G>T	NP_000539.2:p.Val1407Leu
NM_001077183.1:c.4018G>T	NP_001070651.1:p.Val1340Leu
NM_001114382.1:c.4150G>T	NP_001107854.1:p.Val1384Leu
XM_005255529.3:c.4090G>T	XP_005255586.2:p.Val1364Leu
XM_005255531.3:c.4021G>T	XP_005255588.2:p.Val1341Leu
XM_011522636.1:c.4273G>T	XP_011520938.1:p.Val1425Leu
XM_011522637.1:c.4270G>T	XP_011520939.1:p.Val1424Leu
XM_011522638.1:c.4162G>T	XP_011520940.1:p.Val1388Leu
XM_011522639.1:c.4144G>T	XP_011520941.1:p.Val1382Leu
XM_011522640.1:c.4141G>T	XP_011520942.1:p.Val1381Leu
XM_011522641.1:c.3910G>T	XP_011520943.1:p.Val1304Leu
NM_000548.4:c.4219G>T	NP_000539.2:p.Val1407Leu
NM_001077183.2:c.4018G>T	NP_001070651.1:p.Val1340Leu
NM_001114382.2:c.4150G>T	NP_001107854.1:p.Val1384Leu
NM_001318827.1:c.3910G>T	NP_001305756.1:p.Val1304Leu
NM_001318829.1:c.3874G>T	NP_001305758.1:p.Val1292Leu
NM_001318831.1:c.3487G>T	NP_001305760.1:p.Val1163Leu
NM_001318832.1:c.4051G>T	NP_001305761.1:p.Val1351Leu
NM_001363528.1:c.4021G>T	NP_001350457.1:p.Val1341Leu
NM_021055.2:c.4090G>T	NP_066399.2:p.Val1364Leu
XM_005255531.4:c.4021G>T	XP_005255588.2:p.Val1341Leu
XM_011522636.2:c.4273G>T	XP_011520938.1:p.Val1425Leu
XM_011522637.2:c.4270G>T	XP_011520939.1:p.Val1424Leu
XM_011522638.2:c.4435G>T	XP_011520940.2:p.Val1479Leu
XM_011522639.2:c.4144G>T	XP_011520941.1:p.Val1382Leu
XM_011522640.2:c.4141G>T	XP_011520942.1:p.Val1381Leu
XM_017023615.1:c.4216G>T	XP_016879104.1:p.Val1406Leu
XM_017023616.1:c.4087G>T	XP_016879105.1:p.Val1363Leu
XM_017023617.1:c.4183G>T	XP_016879106.1:p.Val1395Leu
XM_017023618.1:c.2929G>T	XP_016879107.1:p.Val977Leu
XM_024450413.1:c.4018G>T	XP_024306181.1:p.Val1340Leu
NM_000548.5:c.4219G>T MANE Select	NP_000539.2:p.Val1407Leu
NM_001370404.1:c.4087G>T	NP_001357333.1:p.Val1363Leu
NM_001370405.1:c.4090G>T	NP_001357334.1:p.Val1364Leu
NM_001077183.3:c.4018G>T	NP_001070651.1:p.Val1340Leu
NM_001114382.3:c.4150G>T	NP_001107854.1:p.Val1384Leu
NM_001318827.2:c.3910G>T	NP_001305756.1:p.Val1304Leu
NM_001318829.2:c.3874G>T	NP_001305758.1:p.Val1292Leu
NM_001318831.2:c.3487G>T	NP_001305760.1:p.Val1163Leu
NM_001318832.2:c.4051G>T	NP_001305761.1:p.Val1351Leu
NM_001363528.2:c.4021G>T	NP_001350457.1:p.Val1341Leu
NM_021055.3:c.4090G>T	NP_066399.2:p.Val1364Leu