Canonical Allele Identifier: CA394299242

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2134252G>T (hg19) ; chr16:g.2084251G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084251G>T , CM000678.2:g.2084251G>T	GRCh38
NC_000016.9:g.2134252G>T , CM000678.1:g.2134252G>T	GRCh37
NC_000016.8:g.2074253G>T	NCBI36
NG_005895.1:g.39946G>T , LRG_487:g.39946G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2378G>T	ENSP00000455997.2:n.*2378G>T
ENST00000642206.2:c.3876G>T	ENSP00000495146.2:p.Glu1292Asp
ENST00000642365.2:c.4026G>T	ENSP00000495459.2:p.Glu1342Asp
ENST00000644417.2:c.*4409G>T	ENSP00000493912.2:n.*4409G>T
ENST00000646464.2:c.*6778G>T	ENSP00000496610.2:n.*6778G>T
ENST00000219476.9:c.4029G>T MANE Select	ENSP00000219476.3:p.Glu1343Asp
ENST00000350773.9:c.3960G>T	ENSP00000344383.4:p.Glu1320Asp
ENST00000401874.7:c.3828G>T	ENSP00000384468.2:p.Glu1276Asp
ENST00000568454.6:c.3861G>T	ENSP00000454487.1:p.Glu1287Asp
ENST00000569110.2:c.265G>T
ENST00000569930.2:n.1911G>T
ENST00000642365.1:c.2683G>T
ENST00000642561.1:c.3900G>T	ENSP00000495099.1:p.Glu1300Asp
ENST00000642728.1:n.211G>T
ENST00000642797.1:c.3831G>T	ENSP00000493846.1:p.Glu1277Asp
ENST00000642936.1:c.3897G>T	ENSP00000494514.1:p.Glu1299Asp
ENST00000643088.1:c.3828G>T	ENSP00000494747.1:p.Glu1276Asp
ENST00000643177.1:n.43G>T
ENST00000643426.1:n.1677G>T
ENST00000643533.1:n.470G>T
ENST00000643946.1:c.3960G>T	ENSP00000495927.1:p.Glu1320Asp
ENST00000644043.1:c.3900G>T	ENSP00000496262.1:p.Glu1300Asp
ENST00000644329.1:c.3828G>T	ENSP00000496611.1:p.Glu1276Asp
ENST00000644335.1:c.3831G>T	ENSP00000496317.1:p.Glu1277Asp
ENST00000644399.1:c.3950G>T
ENST00000645024.1:n.2113G>T
ENST00000645186.1:c.272G>T
ENST00000646388.1:c.4029G>T	ENSP00000495921.1:p.Glu1343Asp
ENST00000646634.1:n.2844G>T
ENST00000646674.1:n.1281G>T
ENST00000647042.1:n.1252G>T
ENST00000647180.1:n.1142G>T
ENST00000219476.7:c.4029G>T	ENSP00000219476.3:p.Glu1343Asp
ENST00000350773.8:c.3960G>T	ENSP00000344383.4:p.Glu1320Asp
ENST00000382538.10:c.3684G>T	ENSP00000371978.6:p.Glu1228Asp
ENST00000401874.6:c.3828G>T	ENSP00000384468.2:p.Glu1276Asp
ENST00000439117.6:c.*3196G>T	ENSP00000406980.2:n.*3196G>T
ENST00000439673.6:c.3720G>T	ENSP00000399232.2:p.Glu1240Asp
ENST00000497886.5:n.1787G>T
ENST00000568454.5:c.3861G>T	ENSP00000454487.1:p.Glu1287Asp
ENST00000569110.1:c.211G>T
ENST00000569930.1:n.1144G>T
NM_000548.3:c.4029G>T , LRG_487t1:c.4029G>T	NP_000539.2:p.Glu1343Asp
NM_001077183.1:c.3828G>T	NP_001070651.1:p.Glu1276Asp
NM_001114382.1:c.3960G>T	NP_001107854.1:p.Glu1320Asp
XM_005255529.3:c.3900G>T	XP_005255586.2:p.Glu1300Asp
XM_005255531.3:c.3831G>T	XP_005255588.2:p.Glu1277Asp
XM_011522636.1:c.4083G>T	XP_011520938.1:p.Glu1361Asp
XM_011522637.1:c.4080G>T	XP_011520939.1:p.Glu1360Asp
XM_011522638.1:c.3972G>T	XP_011520940.1:p.Glu1324Asp
XM_011522639.1:c.3954G>T	XP_011520941.1:p.Glu1318Asp
XM_011522640.1:c.3951G>T	XP_011520942.1:p.Glu1317Asp
XM_011522641.1:c.3720G>T	XP_011520943.1:p.Glu1240Asp
NM_000548.4:c.4029G>T	NP_000539.2:p.Glu1343Asp
NM_001077183.2:c.3828G>T	NP_001070651.1:p.Glu1276Asp
NM_001114382.2:c.3960G>T	NP_001107854.1:p.Glu1320Asp
NM_001318827.1:c.3720G>T	NP_001305756.1:p.Glu1240Asp
NM_001318829.1:c.3684G>T	NP_001305758.1:p.Glu1228Asp
NM_001318831.1:c.3297G>T	NP_001305760.1:p.Glu1099Asp
NM_001318832.1:c.3861G>T	NP_001305761.1:p.Glu1287Asp
NM_001363528.1:c.3831G>T	NP_001350457.1:p.Glu1277Asp
NM_021055.2:c.3900G>T	NP_066399.2:p.Glu1300Asp
XM_005255531.4:c.3831G>T	XP_005255588.2:p.Glu1277Asp
XM_011522636.2:c.4083G>T	XP_011520938.1:p.Glu1361Asp
XM_011522637.2:c.4080G>T	XP_011520939.1:p.Glu1360Asp
XM_011522638.2:c.4245G>T	XP_011520940.2:p.Glu1415Asp
XM_011522639.2:c.3954G>T	XP_011520941.1:p.Glu1318Asp
XM_011522640.2:c.3951G>T	XP_011520942.1:p.Glu1317Asp
XM_017023615.1:c.4026G>T	XP_016879104.1:p.Glu1342Asp
XM_017023616.1:c.3897G>T	XP_016879105.1:p.Glu1299Asp
XM_017023617.1:c.3993G>T	XP_016879106.1:p.Glu1331Asp
XM_017023618.1:c.2739G>T	XP_016879107.1:p.Glu913Asp
XM_024450413.1:c.3828G>T	XP_024306181.1:p.Glu1276Asp
NM_000548.5:c.4029G>T MANE Select	NP_000539.2:p.Glu1343Asp
NM_001370404.1:c.3897G>T	NP_001357333.1:p.Glu1299Asp
NM_001370405.1:c.3900G>T	NP_001357334.1:p.Glu1300Asp
NM_001077183.3:c.3828G>T	NP_001070651.1:p.Glu1276Asp
NM_001114382.3:c.3960G>T	NP_001107854.1:p.Glu1320Asp
NM_001318827.2:c.3720G>T	NP_001305756.1:p.Glu1240Asp
NM_001318829.2:c.3684G>T	NP_001305758.1:p.Glu1228Asp
NM_001318831.2:c.3297G>T	NP_001305760.1:p.Glu1099Asp
NM_001318832.2:c.3861G>T	NP_001305761.1:p.Glu1287Asp
NM_001363528.2:c.3831G>T	NP_001350457.1:p.Glu1277Asp
NM_021055.3:c.3900G>T	NP_066399.2:p.Glu1300Asp