Canonical Allele Identifier: CA020472

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49926
• ClinVar RCV Id: RCV000043193 ; RCV001852900
• dbSNP Id: rs45446594
• MyVariant Identifiers: chr16:g.2134662T>A (hg19) ; chr16:g.2084661T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084661T>A , CM000678.2:g.2084661T>A	GRCh38
NC_000016.9:g.2134662T>A , CM000678.1:g.2134662T>A	GRCh37
NC_000016.8:g.2074663T>A	NCBI36
NG_005895.1:g.40356T>A , LRG_487:g.40356T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2788T>A	ENSP00000455997.2:n.*2788T>A
ENST00000642206.2:c.4286T>A	ENSP00000495146.2:p.Leu1429Ter
ENST00000642365.2:c.4436T>A	ENSP00000495459.2:p.Leu1479Ter
ENST00000644417.2:c.*4819T>A	ENSP00000493912.2:n.*4819T>A
ENST00000646464.2:c.*7188T>A	ENSP00000496610.2:n.*7188T>A
ENST00000219476.9:c.4439T>A MANE Select	ENSP00000219476.3:p.Leu1480Ter
ENST00000350773.9:c.4370T>A	ENSP00000344383.4:p.Leu1457Ter
ENST00000401874.7:c.4238T>A	ENSP00000384468.2:p.Leu1413Ter
ENST00000568454.6:c.4271T>A	ENSP00000454487.1:p.Leu1424Ter
ENST00000569110.2:c.675T>A
ENST00000569930.2:n.2321T>A
ENST00000642365.1:c.3093T>A
ENST00000642561.1:c.4310T>A	ENSP00000495099.1:p.Leu1437Ter
ENST00000642728.1:n.621T>A
ENST00000642797.1:c.4241T>A	ENSP00000493846.1:p.Leu1414Ter
ENST00000642936.1:c.4307T>A	ENSP00000494514.1:p.Leu1436Ter
ENST00000643088.1:c.4238T>A	ENSP00000494747.1:p.Leu1413Ter
ENST00000643177.1:n.453T>A
ENST00000643426.1:n.2087T>A
ENST00000643946.1:c.4370T>A	ENSP00000495927.1:p.Leu1457Ter
ENST00000644043.1:c.4310T>A	ENSP00000496262.1:p.Leu1437Ter
ENST00000644329.1:c.4238T>A	ENSP00000496611.1:p.Leu1413Ter
ENST00000644335.1:c.4241T>A	ENSP00000496317.1:p.Leu1414Ter
ENST00000644399.1:c.4360T>A
ENST00000645024.1:n.2523T>A
ENST00000646388.1:c.4439T>A	ENSP00000495921.1:p.Leu1480Ter
ENST00000646634.1:n.3254T>A
ENST00000646674.1:n.1691T>A
ENST00000647042.1:n.1662T>A
ENST00000647180.1:n.1552T>A
ENST00000219476.7:c.4439T>A	ENSP00000219476.3:p.Leu1480Ter
ENST00000350773.8:c.4370T>A	ENSP00000344383.4:p.Leu1457Ter
ENST00000382538.10:c.4094T>A	ENSP00000371978.6:p.Leu1365Ter
ENST00000401874.6:c.4238T>A	ENSP00000384468.2:p.Leu1413Ter
ENST00000439117.6:c.*3606T>A	ENSP00000406980.2:n.*3606T>A
ENST00000439673.6:c.4130T>A	ENSP00000399232.2:p.Leu1377Ter
ENST00000497886.5:n.2197T>A
ENST00000568454.5:c.4271T>A	ENSP00000454487.1:p.Leu1424Ter
ENST00000569110.1:c.621T>A
ENST00000569930.1:n.1554T>A
NM_000548.3:c.4439T>A , LRG_487t1:c.4439T>A	NP_000539.2:p.Leu1480Ter
NM_001077183.1:c.4238T>A	NP_001070651.1:p.Leu1413Ter
NM_001114382.1:c.4370T>A	NP_001107854.1:p.Leu1457Ter
XM_005255529.3:c.4310T>A	XP_005255586.2:p.Leu1437Ter
XM_005255531.3:c.4241T>A	XP_005255588.2:p.Leu1414Ter
XM_011522636.1:c.4493T>A	XP_011520938.1:p.Leu1498Ter
XM_011522637.1:c.4490T>A	XP_011520939.1:p.Leu1497Ter
XM_011522638.1:c.4382T>A	XP_011520940.1:p.Leu1461Ter
XM_011522639.1:c.4364T>A	XP_011520941.1:p.Leu1455Ter
XM_011522640.1:c.4361T>A	XP_011520942.1:p.Leu1454Ter
XM_011522641.1:c.4130T>A	XP_011520943.1:p.Leu1377Ter
NM_000548.4:c.4439T>A	NP_000539.2:p.Leu1480Ter
NM_001077183.2:c.4238T>A	NP_001070651.1:p.Leu1413Ter
NM_001114382.2:c.4370T>A	NP_001107854.1:p.Leu1457Ter
NM_001318827.1:c.4130T>A	NP_001305756.1:p.Leu1377Ter
NM_001318829.1:c.4094T>A	NP_001305758.1:p.Leu1365Ter
NM_001318831.1:c.3707T>A	NP_001305760.1:p.Leu1236Ter
NM_001318832.1:c.4271T>A	NP_001305761.1:p.Leu1424Ter
NM_001363528.1:c.4241T>A	NP_001350457.1:p.Leu1414Ter
NM_021055.2:c.4310T>A	NP_066399.2:p.Leu1437Ter
XM_005255531.4:c.4241T>A	XP_005255588.2:p.Leu1414Ter
XM_011522636.2:c.4493T>A	XP_011520938.1:p.Leu1498Ter
XM_011522637.2:c.4490T>A	XP_011520939.1:p.Leu1497Ter
XM_011522638.2:c.4655T>A	XP_011520940.2:p.Leu1552Ter
XM_011522639.2:c.4364T>A	XP_011520941.1:p.Leu1455Ter
XM_011522640.2:c.4361T>A	XP_011520942.1:p.Leu1454Ter
XM_017023615.1:c.4436T>A	XP_016879104.1:p.Leu1479Ter
XM_017023616.1:c.4307T>A	XP_016879105.1:p.Leu1436Ter
XM_017023617.1:c.4403T>A	XP_016879106.1:p.Leu1468Ter
XM_017023618.1:c.3149T>A	XP_016879107.1:p.Leu1050Ter
XM_024450413.1:c.4238T>A	XP_024306181.1:p.Leu1413Ter
NM_000548.5:c.4439T>A MANE Select	NP_000539.2:p.Leu1480Ter
NM_001370404.1:c.4307T>A	NP_001357333.1:p.Leu1436Ter
NM_001370405.1:c.4310T>A	NP_001357334.1:p.Leu1437Ter
NM_001077183.3:c.4238T>A	NP_001070651.1:p.Leu1413Ter
NM_001114382.3:c.4370T>A	NP_001107854.1:p.Leu1457Ter
NM_001318827.2:c.4130T>A	NP_001305756.1:p.Leu1377Ter
NM_001318829.2:c.4094T>A	NP_001305758.1:p.Leu1365Ter
NM_001318831.2:c.3707T>A	NP_001305760.1:p.Leu1236Ter
NM_001318832.2:c.4271T>A	NP_001305761.1:p.Leu1424Ter
NM_001363528.2:c.4241T>A	NP_001350457.1:p.Leu1414Ter
NM_021055.3:c.4310T>A	NP_066399.2:p.Leu1437Ter