Canonical Allele Identifier: CA021290

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49978
• ClinVar RCV Id: RCV000043245 ; RCV001238557 ; RCV002345329
• dbSNP Id: rs137854343
• MyVariant Identifiers: chr16:g.2136808G>A (hg19) ; chr16:g.2086807G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086807G>A , CM000678.2:g.2086807G>A	GRCh38
NC_000016.9:g.2136808G>A , CM000678.1:g.2136808G>A	GRCh37
NC_000016.8:g.2076809G>A	NCBI36
NG_005895.1:g.42502G>A , LRG_487:g.42502G>A
NG_008617.1:g.56414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3274G>A	ENSP00000455997.2:n.*3274G>A
ENST00000642206.2:c.4772G>A	ENSP00000495146.2:p.Gly1591Asp
ENST00000642365.2:c.4922G>A	ENSP00000495459.2:p.Gly1641Asp
ENST00000644417.2:c.*5438G>A	ENSP00000493912.2:n.*5438G>A
ENST00000646464.2:c.*7674G>A	ENSP00000496610.2:n.*7674G>A
ENST00000219476.9:c.4925G>A MANE Select	ENSP00000219476.3:p.Gly1642Asp
ENST00000350773.9:c.4856G>A	ENSP00000344383.4:p.Gly1619Asp
ENST00000401874.7:c.4724G>A	ENSP00000384468.2:p.Gly1575Asp
ENST00000568454.6:c.4757G>A	ENSP00000454487.1:p.Gly1586Asp
ENST00000569110.2:c.1148G>A
ENST00000569930.2:n.2807G>A
ENST00000642365.1:c.3579G>A
ENST00000642561.1:c.4796G>A	ENSP00000495099.1:p.Gly1599Asp
ENST00000642728.1:n.1107G>A
ENST00000642791.1:n.522G>A
ENST00000642797.1:c.4727G>A	ENSP00000493846.1:p.Gly1576Asp
ENST00000642936.1:c.4793G>A	ENSP00000494514.1:p.Gly1598Asp
ENST00000643088.1:c.4718G>A	ENSP00000494747.1:p.Gly1573Asp
ENST00000643177.1:n.939G>A
ENST00000643426.1:n.2573G>A
ENST00000643946.1:c.4850G>A	ENSP00000495927.1:p.Gly1617Asp
ENST00000644043.1:c.4796G>A	ENSP00000496262.1:p.Gly1599Asp
ENST00000644278.1:n.407G>A
ENST00000644329.1:c.4724G>A	ENSP00000496611.1:p.Gly1575Asp
ENST00000644335.1:c.4721G>A	ENSP00000496317.1:p.Gly1574Asp
ENST00000644399.1:c.4846G>A
ENST00000645024.1:n.3009G>A
ENST00000646388.1:c.4919G>A	ENSP00000495921.1:p.Gly1640Asp
ENST00000646557.1:n.86G>A
ENST00000646634.1:n.3740G>A
ENST00000646674.1:n.2177G>A
ENST00000647042.1:n.2148G>A
ENST00000647180.1:n.2038G>A
ENST00000219476.7:c.4925G>A	ENSP00000219476.3:p.Gly1642Asp
ENST00000350773.8:c.4856G>A	ENSP00000344383.4:p.Gly1619Asp
ENST00000382538.10:c.4580G>A	ENSP00000371978.6:p.Gly1527Asp
ENST00000401874.6:c.4724G>A	ENSP00000384468.2:p.Gly1575Asp
ENST00000439117.6:c.*4092G>A	ENSP00000406980.2:n.*4092G>A
ENST00000439673.6:c.4616G>A	ENSP00000399232.2:p.Gly1539Asp
ENST00000497886.5:n.2648G>A
ENST00000568454.5:c.4757G>A	ENSP00000454487.1:p.Gly1586Asp
ENST00000569110.1:c.1107G>A
ENST00000569930.1:n.2040G>A
NM_000548.3:c.4925G>A , LRG_487t1:c.4925G>A	NP_000539.2:p.Gly1642Asp
NM_001077183.1:c.4724G>A	NP_001070651.1:p.Gly1575Asp
NM_001114382.1:c.4856G>A	NP_001107854.1:p.Gly1619Asp
XM_005255529.3:c.4796G>A	XP_005255586.2:p.Gly1599Asp
XM_005255531.3:c.4727G>A	XP_005255588.2:p.Gly1576Asp
XM_011522636.1:c.4979G>A	XP_011520938.1:p.Gly1660Asp
XM_011522637.1:c.4976G>A	XP_011520939.1:p.Gly1659Asp
XM_011522638.1:c.4868G>A	XP_011520940.1:p.Gly1623Asp
XM_011522639.1:c.4850G>A	XP_011520941.1:p.Gly1617Asp
XM_011522640.1:c.4847G>A	XP_011520942.1:p.Gly1616Asp
XM_011522641.1:c.4616G>A	XP_011520943.1:p.Gly1539Asp
NM_000548.4:c.4925G>A	NP_000539.2:p.Gly1642Asp
NM_001077183.2:c.4724G>A	NP_001070651.1:p.Gly1575Asp
NM_001114382.2:c.4856G>A	NP_001107854.1:p.Gly1619Asp
NM_001318827.1:c.4616G>A	NP_001305756.1:p.Gly1539Asp
NM_001318829.1:c.4580G>A	NP_001305758.1:p.Gly1527Asp
NM_001318831.1:c.4193G>A	NP_001305760.1:p.Gly1398Asp
NM_001318832.1:c.4757G>A	NP_001305761.1:p.Gly1586Asp
NM_001363528.1:c.4727G>A	NP_001350457.1:p.Gly1576Asp
NM_021055.2:c.4796G>A	NP_066399.2:p.Gly1599Asp
XM_005255531.4:c.4727G>A	XP_005255588.2:p.Gly1576Asp
XM_011522636.2:c.4979G>A	XP_011520938.1:p.Gly1660Asp
XM_011522637.2:c.4976G>A	XP_011520939.1:p.Gly1659Asp
XM_011522638.2:c.5141G>A	XP_011520940.2:p.Gly1714Asp
XM_011522639.2:c.4850G>A	XP_011520941.1:p.Gly1617Asp
XM_011522640.2:c.4847G>A	XP_011520942.1:p.Gly1616Asp
XM_017023615.1:c.4922G>A	XP_016879104.1:p.Gly1641Asp
XM_017023616.1:c.4793G>A	XP_016879105.1:p.Gly1598Asp
XM_017023617.1:c.4889G>A	XP_016879106.1:p.Gly1630Asp
XM_017023618.1:c.3635G>A	XP_016879107.1:p.Gly1212Asp
XM_024450413.1:c.4724G>A	XP_024306181.1:p.Gly1575Asp
NM_000548.5:c.4925G>A MANE Select	NP_000539.2:p.Gly1642Asp
NM_001370404.1:c.4793G>A	NP_001357333.1:p.Gly1598Asp
NM_001370405.1:c.4796G>A	NP_001357334.1:p.Gly1599Asp
NM_001077183.3:c.4724G>A	NP_001070651.1:p.Gly1575Asp
NM_001114382.3:c.4856G>A	NP_001107854.1:p.Gly1619Asp
NM_001318827.2:c.4616G>A	NP_001305756.1:p.Gly1539Asp
NM_001318829.2:c.4580G>A	NP_001305758.1:p.Gly1527Asp
NM_001318831.2:c.4193G>A	NP_001305760.1:p.Gly1398Asp
NM_001318832.2:c.4757G>A	NP_001305761.1:p.Gly1586Asp
NM_001363528.2:c.4727G>A	NP_001350457.1:p.Gly1576Asp
NM_021055.3:c.4796G>A	NP_066399.2:p.Gly1599Asp