Canonical Allele Identifier: CA014458

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65281
• ClinVar RCV Id: RCV000055502 ; RCV000760985
• dbSNP Id: rs397515206
• MyVariant Identifiers: chr16:g.2112583T>C (hg19) ; chr16:g.2062582T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2062582T>C , CM000678.2:g.2062582T>C	GRCh38
NC_000016.9:g.2112583T>C , CM000678.1:g.2112583T>C	GRCh37
NC_000016.8:g.2052584T>C	NCBI36
NG_005895.1:g.18277T>C , LRG_487:g.18277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.1343T>C	ENSP00000455997.2:p.Leu448Pro
ENST00000642206.2:c.1388T>C	ENSP00000495146.2:p.Leu463Pro
ENST00000642365.2:c.1343T>C	ENSP00000495459.2:p.Leu448Pro
ENST00000644417.2:c.*780T>C	ENSP00000493912.2:n.*780T>C
ENST00000646464.2:c.*948T>C	ENSP00000496610.2:n.*948T>C
ENST00000219476.9:c.1343T>C MANE Select	ENSP00000219476.3:p.Leu448Pro
ENST00000350773.9:c.1343T>C	ENSP00000344383.4:p.Leu448Pro
ENST00000401874.7:c.1343T>C	ENSP00000384468.2:p.Leu448Pro
ENST00000463601.2:n.253T>C
ENST00000467949.2:n.513T>C
ENST00000568454.6:c.1376T>C	ENSP00000454487.1:p.Leu459Pro
ENST00000642561.1:c.1343T>C	ENSP00000495099.1:p.Leu448Pro
ENST00000642797.1:c.1343T>C	ENSP00000493846.1:p.Leu448Pro
ENST00000642812.1:n.1388T>C
ENST00000642936.1:c.1343T>C	ENSP00000494514.1:p.Leu448Pro
ENST00000643088.1:c.1343T>C	ENSP00000494747.1:p.Leu448Pro
ENST00000643149.1:n.3353T>C
ENST00000643298.1:c.*845T>C	ENSP00000494393.1:n.*845T>C
ENST00000643745.1:c.*275T>C	ENSP00000495948.1:n.*275T>C
ENST00000643946.1:c.1343T>C	ENSP00000495927.1:p.Leu448Pro
ENST00000644043.1:c.1343T>C	ENSP00000496262.1:p.Leu448Pro
ENST00000644135.1:c.1343T>C	ENSP00000495644.1:p.Leu448Pro
ENST00000644222.1:n.1430T>C
ENST00000644329.1:c.1343T>C	ENSP00000496611.1:p.Leu448Pro
ENST00000644335.1:c.1343T>C	ENSP00000496317.1:p.Leu448Pro
ENST00000644399.1:c.1336T>C
ENST00000644665.1:n.2517T>C
ENST00000644847.1:n.335T>C
ENST00000645591.1:n.2401T>C
ENST00000646388.1:c.1343T>C	ENSP00000495921.1:p.Leu448Pro
ENST00000646634.1:n.356T>C
ENST00000647234.1:n.3101T>C
ENST00000647242.1:n.1979T>C
ENST00000219476.7:c.1343T>C	ENSP00000219476.3:p.Leu448Pro
ENST00000350773.8:c.1343T>C	ENSP00000344383.4:p.Leu448Pro
ENST00000382538.10:c.1196T>C	ENSP00000371978.6:p.Leu399Pro
ENST00000401874.6:c.1343T>C	ENSP00000384468.2:p.Leu448Pro
ENST00000439117.6:c.*642T>C	ENSP00000406980.2:n.*642T>C
ENST00000439673.6:c.1232T>C	ENSP00000399232.2:p.Leu411Pro
ENST00000463601.1:n.506T>C
ENST00000467949.1:c.497T>C	ENSP00000454997.1:p.Leu166Pro
ENST00000568454.5:c.1376T>C	ENSP00000454487.1:p.Leu459Pro
ENST00000568566.5:c.65T>C	ENSP00000455997.1:p.Leu22Pro
NM_000548.3:c.1343T>C , LRG_487t1:c.1343T>C	NP_000539.2:p.Leu448Pro
NM_001077183.1:c.1343T>C	NP_001070651.1:p.Leu448Pro
NM_001114382.1:c.1343T>C	NP_001107854.1:p.Leu448Pro
XM_005255529.3:c.1343T>C	XP_005255586.2:p.Leu448Pro
XM_005255531.3:c.1343T>C	XP_005255588.2:p.Leu448Pro
XM_011522636.1:c.1343T>C	XP_011520938.1:p.Leu448Pro
XM_011522637.1:c.1343T>C	XP_011520939.1:p.Leu448Pro
XM_011522638.1:c.1232T>C	XP_011520940.1:p.Leu411Pro
XM_011522639.1:c.1343T>C	XP_011520941.1:p.Leu448Pro
XM_011522640.1:c.1343T>C	XP_011520942.1:p.Leu448Pro
XM_011522641.1:c.1232T>C	XP_011520943.1:p.Leu411Pro
NM_000548.4:c.1343T>C	NP_000539.2:p.Leu448Pro
NM_001077183.2:c.1343T>C	NP_001070651.1:p.Leu448Pro
NM_001114382.2:c.1343T>C	NP_001107854.1:p.Leu448Pro
NM_001318827.1:c.1232T>C	NP_001305756.1:p.Leu411Pro
NM_001318829.1:c.1196T>C	NP_001305758.1:p.Leu399Pro
NM_001318831.1:c.743T>C	NP_001305760.1:p.Leu248Pro
NM_001318832.1:c.1376T>C	NP_001305761.1:p.Leu459Pro
NM_001363528.1:c.1343T>C	NP_001350457.1:p.Leu448Pro
NM_021055.2:c.1343T>C	NP_066399.2:p.Leu448Pro
XM_005255531.4:c.1343T>C	XP_005255588.2:p.Leu448Pro
XM_011522636.2:c.1343T>C	XP_011520938.1:p.Leu448Pro
XM_011522637.2:c.1343T>C	XP_011520939.1:p.Leu448Pro
XM_011522638.2:c.1505T>C	XP_011520940.2:p.Leu502Pro
XM_011522639.2:c.1343T>C	XP_011520941.1:p.Leu448Pro
XM_011522640.2:c.1343T>C	XP_011520942.1:p.Leu448Pro
XM_017023615.1:c.1343T>C	XP_016879104.1:p.Leu448Pro
XM_017023616.1:c.1343T>C	XP_016879105.1:p.Leu448Pro
XM_017023617.1:c.1505T>C	XP_016879106.1:p.Leu502Pro
XM_017023618.1:c.-2T>C	XP_016879107.1:n.-2T>C
XM_024450413.1:c.1343T>C	XP_024306181.1:p.Leu448Pro
NM_000548.5:c.1343T>C MANE Select	NP_000539.2:p.Leu448Pro
NM_001370404.1:c.1343T>C	NP_001357333.1:p.Leu448Pro
NM_001370405.1:c.1343T>C	NP_001357334.1:p.Leu448Pro
NM_001077183.3:c.1343T>C	NP_001070651.1:p.Leu448Pro
NM_001114382.3:c.1343T>C	NP_001107854.1:p.Leu448Pro
NM_001318827.2:c.1232T>C	NP_001305756.1:p.Leu411Pro
NM_001318829.2:c.1196T>C	NP_001305758.1:p.Leu399Pro
NM_001318831.2:c.743T>C	NP_001305760.1:p.Leu248Pro
NM_001318832.2:c.1376T>C	NP_001305761.1:p.Leu459Pro
NM_001363528.2:c.1343T>C	NP_001350457.1:p.Leu448Pro
NM_021055.3:c.1343T>C	NP_066399.2:p.Leu448Pro