Canonical Allele Identifier: CA394304945

Gene: TSC2

Linked Data

• ClinVar Variation Id: 547827
• ClinVar RCV Id: RCV000660349
• dbSNP Id: rs397514988
• MyVariant Identifiers: chr16:g.2135301T>A (hg19) ; chr16:g.2085300T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085300T>A , CM000678.2:g.2085300T>A	GRCh38
NC_000016.9:g.2135301T>A , CM000678.1:g.2135301T>A	GRCh37
NC_000016.8:g.2075302T>A	NCBI36
NG_005895.1:g.40995T>A , LRG_487:g.40995T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2989T>A	ENSP00000455997.2:n.*2989T>A
ENST00000642206.2:c.4487T>A	ENSP00000495146.2:p.Val1496Asp
ENST00000642365.2:c.4637T>A	ENSP00000495459.2:p.Val1546Asp
ENST00000644417.2:c.*5020T>A	ENSP00000493912.2:n.*5020T>A
ENST00000646464.2:c.*7389T>A	ENSP00000496610.2:n.*7389T>A
ENST00000219476.9:c.4640T>A MANE Select	ENSP00000219476.3:p.Val1547Asp
ENST00000350773.9:c.4571T>A	ENSP00000344383.4:p.Val1524Asp
ENST00000401874.7:c.4439T>A	ENSP00000384468.2:p.Val1480Asp
ENST00000568454.6:c.4472T>A	ENSP00000454487.1:p.Val1491Asp
ENST00000569110.2:c.863T>A
ENST00000569930.2:n.2522T>A
ENST00000642365.1:c.3294T>A
ENST00000642561.1:c.4511T>A	ENSP00000495099.1:p.Val1504Asp
ENST00000642728.1:n.822T>A
ENST00000642791.1:n.237T>A
ENST00000642797.1:c.4442T>A	ENSP00000493846.1:p.Val1481Asp
ENST00000642936.1:c.4508T>A	ENSP00000494514.1:p.Val1503Asp
ENST00000643088.1:c.4433T>A	ENSP00000494747.1:p.Val1478Asp
ENST00000643177.1:n.654T>A
ENST00000643426.1:n.2288T>A
ENST00000643946.1:c.4565T>A	ENSP00000495927.1:p.Val1522Asp
ENST00000644043.1:c.4511T>A	ENSP00000496262.1:p.Val1504Asp
ENST00000644278.1:n.122T>A
ENST00000644329.1:c.4439T>A	ENSP00000496611.1:p.Val1480Asp
ENST00000644335.1:c.4436T>A	ENSP00000496317.1:p.Val1479Asp
ENST00000644399.1:c.4561T>A
ENST00000645024.1:n.2724T>A
ENST00000646388.1:c.4634T>A	ENSP00000495921.1:p.Val1545Asp
ENST00000646634.1:n.3455T>A
ENST00000646674.1:n.1892T>A
ENST00000647042.1:n.1863T>A
ENST00000647180.1:n.1753T>A
ENST00000219476.7:c.4640T>A	ENSP00000219476.3:p.Val1547Asp
ENST00000350773.8:c.4571T>A	ENSP00000344383.4:p.Val1524Asp
ENST00000382538.10:c.4295T>A	ENSP00000371978.6:p.Val1432Asp
ENST00000401874.6:c.4439T>A	ENSP00000384468.2:p.Val1480Asp
ENST00000439117.6:c.*3807T>A	ENSP00000406980.2:n.*3807T>A
ENST00000439673.6:c.4331T>A	ENSP00000399232.2:p.Val1444Asp
ENST00000497886.5:n.2398T>A
ENST00000568454.5:c.4472T>A	ENSP00000454487.1:p.Val1491Asp
ENST00000569110.1:c.822T>A
ENST00000569930.1:n.1755T>A
NM_000548.3:c.4640T>A , LRG_487t1:c.4640T>A	NP_000539.2:p.Val1547Asp
NM_001077183.1:c.4439T>A	NP_001070651.1:p.Val1480Asp
NM_001114382.1:c.4571T>A	NP_001107854.1:p.Val1524Asp
XM_005255529.3:c.4511T>A	XP_005255586.2:p.Val1504Asp
XM_005255531.3:c.4442T>A	XP_005255588.2:p.Val1481Asp
XM_011522636.1:c.4694T>A	XP_011520938.1:p.Val1565Asp
XM_011522637.1:c.4691T>A	XP_011520939.1:p.Val1564Asp
XM_011522638.1:c.4583T>A	XP_011520940.1:p.Val1528Asp
XM_011522639.1:c.4565T>A	XP_011520941.1:p.Val1522Asp
XM_011522640.1:c.4562T>A	XP_011520942.1:p.Val1521Asp
XM_011522641.1:c.4331T>A	XP_011520943.1:p.Val1444Asp
NM_000548.4:c.4640T>A	NP_000539.2:p.Val1547Asp
NM_001077183.2:c.4439T>A	NP_001070651.1:p.Val1480Asp
NM_001114382.2:c.4571T>A	NP_001107854.1:p.Val1524Asp
NM_001318827.1:c.4331T>A	NP_001305756.1:p.Val1444Asp
NM_001318829.1:c.4295T>A	NP_001305758.1:p.Val1432Asp
NM_001318831.1:c.3908T>A	NP_001305760.1:p.Val1303Asp
NM_001318832.1:c.4472T>A	NP_001305761.1:p.Val1491Asp
NM_001363528.1:c.4442T>A	NP_001350457.1:p.Val1481Asp
NM_021055.2:c.4511T>A	NP_066399.2:p.Val1504Asp
XM_005255531.4:c.4442T>A	XP_005255588.2:p.Val1481Asp
XM_011522636.2:c.4694T>A	XP_011520938.1:p.Val1565Asp
XM_011522637.2:c.4691T>A	XP_011520939.1:p.Val1564Asp
XM_011522638.2:c.4856T>A	XP_011520940.2:p.Val1619Asp
XM_011522639.2:c.4565T>A	XP_011520941.1:p.Val1522Asp
XM_011522640.2:c.4562T>A	XP_011520942.1:p.Val1521Asp
XM_017023615.1:c.4637T>A	XP_016879104.1:p.Val1546Asp
XM_017023616.1:c.4508T>A	XP_016879105.1:p.Val1503Asp
XM_017023617.1:c.4604T>A	XP_016879106.1:p.Val1535Asp
XM_017023618.1:c.3350T>A	XP_016879107.1:p.Val1117Asp
XM_024450413.1:c.4439T>A	XP_024306181.1:p.Val1480Asp
NM_000548.5:c.4640T>A MANE Select	NP_000539.2:p.Val1547Asp
NM_001370404.1:c.4508T>A	NP_001357333.1:p.Val1503Asp
NM_001370405.1:c.4511T>A	NP_001357334.1:p.Val1504Asp
NM_001077183.3:c.4439T>A	NP_001070651.1:p.Val1480Asp
NM_001114382.3:c.4571T>A	NP_001107854.1:p.Val1524Asp
NM_001318827.2:c.4331T>A	NP_001305756.1:p.Val1444Asp
NM_001318829.2:c.4295T>A	NP_001305758.1:p.Val1432Asp
NM_001318831.2:c.3908T>A	NP_001305760.1:p.Val1303Asp
NM_001318832.2:c.4472T>A	NP_001305761.1:p.Val1491Asp
NM_001363528.2:c.4442T>A	NP_001350457.1:p.Val1481Asp
NM_021055.3:c.4511T>A	NP_066399.2:p.Val1504Asp