Canonical Allele Identifier: CA020888

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49794
• ClinVar RCV Id: RCV000043059 ; RCV001054560 ; RCV001200217 ; RCV003162358
• dbSNP Id: rs45517360
• gnomAD v4: 16-2086202-G-A
• MyVariant Identifiers: chr16:g.2136203G>A (hg19) ; chr16:g.2086202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086202G>A , CM000678.2:g.2086202G>A	GRCh38
NC_000016.9:g.2136203G>A , CM000678.1:g.2136203G>A	GRCh37
NC_000016.8:g.2076204G>A	NCBI36
NG_005895.1:g.41897G>A , LRG_487:g.41897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3021G>A	ENSP00000455997.2:n.*3021G>A
ENST00000642206.2:c.4519G>A	ENSP00000495146.2:p.Glu1507Lys
ENST00000642365.2:c.4669G>A	ENSP00000495459.2:p.Glu1557Lys
ENST00000644417.2:c.*5185G>A	ENSP00000493912.2:n.*5185G>A
ENST00000646464.2:c.*7421G>A	ENSP00000496610.2:n.*7421G>A
ENST00000219476.9:c.4672G>A MANE Select	ENSP00000219476.3:p.Glu1558Lys
ENST00000350773.9:c.4603G>A	ENSP00000344383.4:p.Glu1535Lys
ENST00000401874.7:c.4471G>A	ENSP00000384468.2:p.Glu1491Lys
ENST00000568454.6:c.4504G>A	ENSP00000454487.1:p.Glu1502Lys
ENST00000569110.2:c.895G>A
ENST00000569930.2:n.2554G>A
ENST00000642365.1:c.3326G>A
ENST00000642561.1:c.4543G>A	ENSP00000495099.1:p.Glu1515Lys
ENST00000642728.1:n.854G>A
ENST00000642791.1:n.269G>A
ENST00000642797.1:c.4474G>A	ENSP00000493846.1:p.Glu1492Lys
ENST00000642936.1:c.4540G>A	ENSP00000494514.1:p.Glu1514Lys
ENST00000643088.1:c.4465G>A	ENSP00000494747.1:p.Glu1489Lys
ENST00000643177.1:n.686G>A
ENST00000643426.1:n.2320G>A
ENST00000643946.1:c.4597G>A	ENSP00000495927.1:p.Glu1533Lys
ENST00000644043.1:c.4543G>A	ENSP00000496262.1:p.Glu1515Lys
ENST00000644278.1:n.154G>A
ENST00000644329.1:c.4471G>A	ENSP00000496611.1:p.Glu1491Lys
ENST00000644335.1:c.4468G>A	ENSP00000496317.1:p.Glu1490Lys
ENST00000644399.1:c.4593G>A
ENST00000645024.1:n.2756G>A
ENST00000646388.1:c.4666G>A	ENSP00000495921.1:p.Glu1556Lys
ENST00000646634.1:n.3487G>A
ENST00000646674.1:n.1924G>A
ENST00000647042.1:n.1895G>A
ENST00000647180.1:n.1785G>A
ENST00000219476.7:c.4672G>A	ENSP00000219476.3:p.Glu1558Lys
ENST00000350773.8:c.4603G>A	ENSP00000344383.4:p.Glu1535Lys
ENST00000382538.10:c.4327G>A	ENSP00000371978.6:p.Glu1443Lys
ENST00000401874.6:c.4471G>A	ENSP00000384468.2:p.Glu1491Lys
ENST00000439117.6:c.*3839G>A	ENSP00000406980.2:n.*3839G>A
ENST00000439673.6:c.4363G>A	ENSP00000399232.2:p.Glu1455Lys
ENST00000497886.5:n.2430G>A
ENST00000568454.5:c.4504G>A	ENSP00000454487.1:p.Glu1502Lys
ENST00000569110.1:c.854G>A
ENST00000569930.1:n.1787G>A
NM_000548.3:c.4672G>A , LRG_487t1:c.4672G>A	NP_000539.2:p.Glu1558Lys
NM_001077183.1:c.4471G>A	NP_001070651.1:p.Glu1491Lys
NM_001114382.1:c.4603G>A	NP_001107854.1:p.Glu1535Lys
XM_005255529.3:c.4543G>A	XP_005255586.2:p.Glu1515Lys
XM_005255531.3:c.4474G>A	XP_005255588.2:p.Glu1492Lys
XM_011522636.1:c.4726G>A	XP_011520938.1:p.Glu1576Lys
XM_011522637.1:c.4723G>A	XP_011520939.1:p.Glu1575Lys
XM_011522638.1:c.4615G>A	XP_011520940.1:p.Glu1539Lys
XM_011522639.1:c.4597G>A	XP_011520941.1:p.Glu1533Lys
XM_011522640.1:c.4594G>A	XP_011520942.1:p.Glu1532Lys
XM_011522641.1:c.4363G>A	XP_011520943.1:p.Glu1455Lys
NM_000548.4:c.4672G>A	NP_000539.2:p.Glu1558Lys
NM_001077183.2:c.4471G>A	NP_001070651.1:p.Glu1491Lys
NM_001114382.2:c.4603G>A	NP_001107854.1:p.Glu1535Lys
NM_001318827.1:c.4363G>A	NP_001305756.1:p.Glu1455Lys
NM_001318829.1:c.4327G>A	NP_001305758.1:p.Glu1443Lys
NM_001318831.1:c.3940G>A	NP_001305760.1:p.Glu1314Lys
NM_001318832.1:c.4504G>A	NP_001305761.1:p.Glu1502Lys
NM_001363528.1:c.4474G>A	NP_001350457.1:p.Glu1492Lys
NM_021055.2:c.4543G>A	NP_066399.2:p.Glu1515Lys
XM_005255531.4:c.4474G>A	XP_005255588.2:p.Glu1492Lys
XM_011522636.2:c.4726G>A	XP_011520938.1:p.Glu1576Lys
XM_011522637.2:c.4723G>A	XP_011520939.1:p.Glu1575Lys
XM_011522638.2:c.4888G>A	XP_011520940.2:p.Glu1630Lys
XM_011522639.2:c.4597G>A	XP_011520941.1:p.Glu1533Lys
XM_011522640.2:c.4594G>A	XP_011520942.1:p.Glu1532Lys
XM_017023615.1:c.4669G>A	XP_016879104.1:p.Glu1557Lys
XM_017023616.1:c.4540G>A	XP_016879105.1:p.Glu1514Lys
XM_017023617.1:c.4636G>A	XP_016879106.1:p.Glu1546Lys
XM_017023618.1:c.3382G>A	XP_016879107.1:p.Glu1128Lys
XM_024450413.1:c.4471G>A	XP_024306181.1:p.Glu1491Lys
NM_000548.5:c.4672G>A MANE Select	NP_000539.2:p.Glu1558Lys
NM_001370404.1:c.4540G>A	NP_001357333.1:p.Glu1514Lys
NM_001370405.1:c.4543G>A	NP_001357334.1:p.Glu1515Lys
NM_001077183.3:c.4471G>A	NP_001070651.1:p.Glu1491Lys
NM_001114382.3:c.4603G>A	NP_001107854.1:p.Glu1535Lys
NM_001318827.2:c.4363G>A	NP_001305756.1:p.Glu1455Lys
NM_001318829.2:c.4327G>A	NP_001305758.1:p.Glu1443Lys
NM_001318831.2:c.3940G>A	NP_001305760.1:p.Glu1314Lys
NM_001318832.2:c.4504G>A	NP_001305761.1:p.Glu1502Lys
NM_001363528.2:c.4474G>A	NP_001350457.1:p.Glu1492Lys
NM_021055.3:c.4543G>A	NP_066399.2:p.Glu1515Lys