Canonical Allele Identifier: CA394299159

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2134238G>C (hg19) ; chr16:g.2084237G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084237G>C , CM000678.2:g.2084237G>C	GRCh38
NC_000016.9:g.2134238G>C , CM000678.1:g.2134238G>C	GRCh37
NC_000016.8:g.2074239G>C	NCBI36
NG_005895.1:g.39932G>C , LRG_487:g.39932G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2364G>C	ENSP00000455997.2:n.*2364G>C
ENST00000642206.2:c.3862G>C	ENSP00000495146.2:p.Val1288Leu
ENST00000642365.2:c.4012G>C	ENSP00000495459.2:p.Val1338Leu
ENST00000644417.2:c.*4395G>C	ENSP00000493912.2:n.*4395G>C
ENST00000646464.2:c.*6764G>C	ENSP00000496610.2:n.*6764G>C
ENST00000219476.9:c.4015G>C MANE Select	ENSP00000219476.3:p.Val1339Leu
ENST00000350773.9:c.3946G>C	ENSP00000344383.4:p.Val1316Leu
ENST00000401874.7:c.3814G>C	ENSP00000384468.2:p.Val1272Leu
ENST00000568454.6:c.3847G>C	ENSP00000454487.1:p.Val1283Leu
ENST00000569110.2:c.251G>C
ENST00000569930.2:n.1897G>C
ENST00000642365.1:c.2669G>C
ENST00000642561.1:c.3886G>C	ENSP00000495099.1:p.Val1296Leu
ENST00000642728.1:n.197G>C
ENST00000642797.1:c.3817G>C	ENSP00000493846.1:p.Val1273Leu
ENST00000642936.1:c.3883G>C	ENSP00000494514.1:p.Val1295Leu
ENST00000643088.1:c.3814G>C	ENSP00000494747.1:p.Val1272Leu
ENST00000643177.1:n.29G>C
ENST00000643426.1:n.1663G>C
ENST00000643533.1:n.456G>C
ENST00000643946.1:c.3946G>C	ENSP00000495927.1:p.Val1316Leu
ENST00000644043.1:c.3886G>C	ENSP00000496262.1:p.Val1296Leu
ENST00000644329.1:c.3814G>C	ENSP00000496611.1:p.Val1272Leu
ENST00000644335.1:c.3817G>C	ENSP00000496317.1:p.Val1273Leu
ENST00000644399.1:c.3936G>C
ENST00000645024.1:n.2099G>C
ENST00000645186.1:c.258G>C
ENST00000646388.1:c.4015G>C	ENSP00000495921.1:p.Val1339Leu
ENST00000646634.1:n.2830G>C
ENST00000646674.1:n.1267G>C
ENST00000647042.1:n.1238G>C
ENST00000647180.1:n.1128G>C
ENST00000219476.7:c.4015G>C	ENSP00000219476.3:p.Val1339Leu
ENST00000350773.8:c.3946G>C	ENSP00000344383.4:p.Val1316Leu
ENST00000382538.10:c.3670G>C	ENSP00000371978.6:p.Val1224Leu
ENST00000401874.6:c.3814G>C	ENSP00000384468.2:p.Val1272Leu
ENST00000439117.6:c.*3182G>C	ENSP00000406980.2:n.*3182G>C
ENST00000439673.6:c.3706G>C	ENSP00000399232.2:p.Val1236Leu
ENST00000497886.5:n.1773G>C
ENST00000568454.5:c.3847G>C	ENSP00000454487.1:p.Val1283Leu
ENST00000569110.1:c.197G>C
ENST00000569930.1:n.1130G>C
NM_000548.3:c.4015G>C , LRG_487t1:c.4015G>C	NP_000539.2:p.Val1339Leu
NM_001077183.1:c.3814G>C	NP_001070651.1:p.Val1272Leu
NM_001114382.1:c.3946G>C	NP_001107854.1:p.Val1316Leu
XM_005255529.3:c.3886G>C	XP_005255586.2:p.Val1296Leu
XM_005255531.3:c.3817G>C	XP_005255588.2:p.Val1273Leu
XM_011522636.1:c.4069G>C	XP_011520938.1:p.Val1357Leu
XM_011522637.1:c.4066G>C	XP_011520939.1:p.Val1356Leu
XM_011522638.1:c.3958G>C	XP_011520940.1:p.Val1320Leu
XM_011522639.1:c.3940G>C	XP_011520941.1:p.Val1314Leu
XM_011522640.1:c.3937G>C	XP_011520942.1:p.Val1313Leu
XM_011522641.1:c.3706G>C	XP_011520943.1:p.Val1236Leu
NM_000548.4:c.4015G>C	NP_000539.2:p.Val1339Leu
NM_001077183.2:c.3814G>C	NP_001070651.1:p.Val1272Leu
NM_001114382.2:c.3946G>C	NP_001107854.1:p.Val1316Leu
NM_001318827.1:c.3706G>C	NP_001305756.1:p.Val1236Leu
NM_001318829.1:c.3670G>C	NP_001305758.1:p.Val1224Leu
NM_001318831.1:c.3283G>C	NP_001305760.1:p.Val1095Leu
NM_001318832.1:c.3847G>C	NP_001305761.1:p.Val1283Leu
NM_001363528.1:c.3817G>C	NP_001350457.1:p.Val1273Leu
NM_021055.2:c.3886G>C	NP_066399.2:p.Val1296Leu
XM_005255531.4:c.3817G>C	XP_005255588.2:p.Val1273Leu
XM_011522636.2:c.4069G>C	XP_011520938.1:p.Val1357Leu
XM_011522637.2:c.4066G>C	XP_011520939.1:p.Val1356Leu
XM_011522638.2:c.4231G>C	XP_011520940.2:p.Val1411Leu
XM_011522639.2:c.3940G>C	XP_011520941.1:p.Val1314Leu
XM_011522640.2:c.3937G>C	XP_011520942.1:p.Val1313Leu
XM_017023615.1:c.4012G>C	XP_016879104.1:p.Val1338Leu
XM_017023616.1:c.3883G>C	XP_016879105.1:p.Val1295Leu
XM_017023617.1:c.3979G>C	XP_016879106.1:p.Val1327Leu
XM_017023618.1:c.2725G>C	XP_016879107.1:p.Val909Leu
XM_024450413.1:c.3814G>C	XP_024306181.1:p.Val1272Leu
NM_000548.5:c.4015G>C MANE Select	NP_000539.2:p.Val1339Leu
NM_001370404.1:c.3883G>C	NP_001357333.1:p.Val1295Leu
NM_001370405.1:c.3886G>C	NP_001357334.1:p.Val1296Leu
NM_001077183.3:c.3814G>C	NP_001070651.1:p.Val1272Leu
NM_001114382.3:c.3946G>C	NP_001107854.1:p.Val1316Leu
NM_001318827.2:c.3706G>C	NP_001305756.1:p.Val1236Leu
NM_001318829.2:c.3670G>C	NP_001305758.1:p.Val1224Leu
NM_001318831.2:c.3283G>C	NP_001305760.1:p.Val1095Leu
NM_001318832.2:c.3847G>C	NP_001305761.1:p.Val1283Leu
NM_001363528.2:c.3817G>C	NP_001350457.1:p.Val1273Leu
NM_021055.3:c.3886G>C	NP_066399.2:p.Val1296Leu