Canonical Allele Identifier: CA394299615

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2134358T>G (hg19) ; chr16:g.2084357T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084357T>G , CM000678.2:g.2084357T>G	GRCh38
NC_000016.9:g.2134358T>G , CM000678.1:g.2134358T>G	GRCh37
NC_000016.8:g.2074359T>G	NCBI36
NG_005895.1:g.40052T>G , LRG_487:g.40052T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2484T>G	ENSP00000455997.2:n.*2484T>G
ENST00000642206.2:c.3982T>G	ENSP00000495146.2:p.Ser1328Ala
ENST00000642365.2:c.4132T>G	ENSP00000495459.2:p.Ser1378Ala
ENST00000644417.2:c.*4515T>G	ENSP00000493912.2:n.*4515T>G
ENST00000646464.2:c.*6884T>G	ENSP00000496610.2:n.*6884T>G
ENST00000219476.9:c.4135T>G MANE Select	ENSP00000219476.3:p.Ser1379Ala
ENST00000350773.9:c.4066T>G	ENSP00000344383.4:p.Ser1356Ala
ENST00000401874.7:c.3934T>G	ENSP00000384468.2:p.Ser1312Ala
ENST00000568454.6:c.3967T>G	ENSP00000454487.1:p.Ser1323Ala
ENST00000569110.2:c.371T>G
ENST00000569930.2:n.2017T>G
ENST00000642365.1:c.2789T>G
ENST00000642561.1:c.4006T>G	ENSP00000495099.1:p.Ser1336Ala
ENST00000642728.1:n.317T>G
ENST00000642797.1:c.3937T>G	ENSP00000493846.1:p.Ser1313Ala
ENST00000642936.1:c.4003T>G	ENSP00000494514.1:p.Ser1335Ala
ENST00000643088.1:c.3934T>G	ENSP00000494747.1:p.Ser1312Ala
ENST00000643177.1:n.149T>G
ENST00000643426.1:n.1783T>G
ENST00000643946.1:c.4066T>G	ENSP00000495927.1:p.Ser1356Ala
ENST00000644043.1:c.4006T>G	ENSP00000496262.1:p.Ser1336Ala
ENST00000644329.1:c.3934T>G	ENSP00000496611.1:p.Ser1312Ala
ENST00000644335.1:c.3937T>G	ENSP00000496317.1:p.Ser1313Ala
ENST00000644399.1:c.4056T>G
ENST00000645024.1:n.2219T>G
ENST00000645186.1:c.378T>G
ENST00000646388.1:c.4135T>G	ENSP00000495921.1:p.Ser1379Ala
ENST00000646634.1:n.2950T>G
ENST00000646674.1:n.1387T>G
ENST00000647042.1:n.1358T>G
ENST00000647180.1:n.1248T>G
ENST00000219476.7:c.4135T>G	ENSP00000219476.3:p.Ser1379Ala
ENST00000350773.8:c.4066T>G	ENSP00000344383.4:p.Ser1356Ala
ENST00000382538.10:c.3790T>G	ENSP00000371978.6:p.Ser1264Ala
ENST00000401874.6:c.3934T>G	ENSP00000384468.2:p.Ser1312Ala
ENST00000439117.6:c.*3302T>G	ENSP00000406980.2:n.*3302T>G
ENST00000439673.6:c.3826T>G	ENSP00000399232.2:p.Ser1276Ala
ENST00000497886.5:n.1893T>G
ENST00000568454.5:c.3967T>G	ENSP00000454487.1:p.Ser1323Ala
ENST00000569110.1:c.317T>G
ENST00000569930.1:n.1250T>G
NM_000548.3:c.4135T>G , LRG_487t1:c.4135T>G	NP_000539.2:p.Ser1379Ala
NM_001077183.1:c.3934T>G	NP_001070651.1:p.Ser1312Ala
NM_001114382.1:c.4066T>G	NP_001107854.1:p.Ser1356Ala
XM_005255529.3:c.4006T>G	XP_005255586.2:p.Ser1336Ala
XM_005255531.3:c.3937T>G	XP_005255588.2:p.Ser1313Ala
XM_011522636.1:c.4189T>G	XP_011520938.1:p.Ser1397Ala
XM_011522637.1:c.4186T>G	XP_011520939.1:p.Ser1396Ala
XM_011522638.1:c.4078T>G	XP_011520940.1:p.Ser1360Ala
XM_011522639.1:c.4060T>G	XP_011520941.1:p.Ser1354Ala
XM_011522640.1:c.4057T>G	XP_011520942.1:p.Ser1353Ala
XM_011522641.1:c.3826T>G	XP_011520943.1:p.Ser1276Ala
NM_000548.4:c.4135T>G	NP_000539.2:p.Ser1379Ala
NM_001077183.2:c.3934T>G	NP_001070651.1:p.Ser1312Ala
NM_001114382.2:c.4066T>G	NP_001107854.1:p.Ser1356Ala
NM_001318827.1:c.3826T>G	NP_001305756.1:p.Ser1276Ala
NM_001318829.1:c.3790T>G	NP_001305758.1:p.Ser1264Ala
NM_001318831.1:c.3403T>G	NP_001305760.1:p.Ser1135Ala
NM_001318832.1:c.3967T>G	NP_001305761.1:p.Ser1323Ala
NM_001363528.1:c.3937T>G	NP_001350457.1:p.Ser1313Ala
NM_021055.2:c.4006T>G	NP_066399.2:p.Ser1336Ala
XM_005255531.4:c.3937T>G	XP_005255588.2:p.Ser1313Ala
XM_011522636.2:c.4189T>G	XP_011520938.1:p.Ser1397Ala
XM_011522637.2:c.4186T>G	XP_011520939.1:p.Ser1396Ala
XM_011522638.2:c.4351T>G	XP_011520940.2:p.Ser1451Ala
XM_011522639.2:c.4060T>G	XP_011520941.1:p.Ser1354Ala
XM_011522640.2:c.4057T>G	XP_011520942.1:p.Ser1353Ala
XM_017023615.1:c.4132T>G	XP_016879104.1:p.Ser1378Ala
XM_017023616.1:c.4003T>G	XP_016879105.1:p.Ser1335Ala
XM_017023617.1:c.4099T>G	XP_016879106.1:p.Ser1367Ala
XM_017023618.1:c.2845T>G	XP_016879107.1:p.Ser949Ala
XM_024450413.1:c.3934T>G	XP_024306181.1:p.Ser1312Ala
NM_000548.5:c.4135T>G MANE Select	NP_000539.2:p.Ser1379Ala
NM_001370404.1:c.4003T>G	NP_001357333.1:p.Ser1335Ala
NM_001370405.1:c.4006T>G	NP_001357334.1:p.Ser1336Ala
NM_001077183.3:c.3934T>G	NP_001070651.1:p.Ser1312Ala
NM_001114382.3:c.4066T>G	NP_001107854.1:p.Ser1356Ala
NM_001318827.2:c.3826T>G	NP_001305756.1:p.Ser1276Ala
NM_001318829.2:c.3790T>G	NP_001305758.1:p.Ser1264Ala
NM_001318831.2:c.3403T>G	NP_001305760.1:p.Ser1135Ala
NM_001318832.2:c.3967T>G	NP_001305761.1:p.Ser1323Ala
NM_001363528.2:c.3937T>G	NP_001350457.1:p.Ser1313Ala
NM_021055.3:c.4006T>G	NP_066399.2:p.Ser1336Ala