Canonical Allele Identifier: CA394312189

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1697184
• ClinVar RCV Id: RCV002267530 ; RCV003096071
• dbSNP Id: rs2151620842
• MyVariant Identifiers: chr16:g.2138081A>G (hg19) ; chr16:g.2088080A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088080A>G , CM000678.2:g.2088080A>G	GRCh38
NC_000016.9:g.2138081A>G , CM000678.1:g.2138081A>G	GRCh37
NC_000016.8:g.2078082A>G	NCBI36
NG_005895.1:g.43775A>G , LRG_487:g.43775A>G
NG_008617.1:g.55141T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3450A>G	ENSP00000455997.2:n.*3450A>G
ENST00000642206.2:c.4948A>G	ENSP00000495146.2:p.Lys1650Glu
ENST00000642365.2:c.5098A>G	ENSP00000495459.2:p.Lys1700Glu
ENST00000644417.2:c.*5614A>G	ENSP00000493912.2:n.*5614A>G
ENST00000646464.2:c.*7850A>G	ENSP00000496610.2:n.*7850A>G
ENST00000219476.9:c.5101A>G MANE Select	ENSP00000219476.3:p.Lys1701Glu
ENST00000350773.9:c.5032A>G	ENSP00000344383.4:p.Lys1678Glu
ENST00000401874.7:c.4900A>G	ENSP00000384468.2:p.Lys1634Glu
ENST00000568454.6:c.4933A>G	ENSP00000454487.1:p.Lys1645Glu
ENST00000569110.2:c.1324A>G
ENST00000569930.2:n.2983A>G
ENST00000642365.1:c.3755A>G
ENST00000642561.1:c.4972A>G	ENSP00000495099.1:p.Lys1658Glu
ENST00000642791.1:n.698A>G
ENST00000642797.1:c.4903A>G	ENSP00000493846.1:p.Lys1635Glu
ENST00000642936.1:c.4969A>G	ENSP00000494514.1:p.Lys1657Glu
ENST00000643088.1:c.4894A>G	ENSP00000494747.1:p.Lys1632Glu
ENST00000643426.1:n.2749A>G
ENST00000643946.1:c.5026A>G	ENSP00000495927.1:p.Lys1676Glu
ENST00000644043.1:c.4972A>G	ENSP00000496262.1:p.Lys1658Glu
ENST00000644329.1:c.4900A>G	ENSP00000496611.1:p.Lys1634Glu
ENST00000644335.1:c.4897A>G	ENSP00000496317.1:p.Lys1633Glu
ENST00000644399.1:c.5022A>G
ENST00000645024.1:n.3185A>G
ENST00000646388.1:c.5095A>G	ENSP00000495921.1:p.Lys1699Glu
ENST00000646634.1:n.3916A>G
ENST00000646674.1:n.2353A>G
ENST00000647042.1:n.2324A>G
ENST00000647180.1:n.2214A>G
ENST00000219476.7:c.5101A>G	ENSP00000219476.3:p.Lys1701Glu
ENST00000350773.8:c.5032A>G	ENSP00000344383.4:p.Lys1678Glu
ENST00000382538.10:c.4756A>G	ENSP00000371978.6:p.Lys1586Glu
ENST00000401874.6:c.4900A>G	ENSP00000384468.2:p.Lys1634Glu
ENST00000439117.6:c.*4268A>G	ENSP00000406980.2:n.*4268A>G
ENST00000439673.6:c.4792A>G	ENSP00000399232.2:p.Lys1598Glu
ENST00000497886.5:n.2824A>G
ENST00000568454.5:c.4933A>G	ENSP00000454487.1:p.Lys1645Glu
ENST00000569110.1:c.1283A>G
ENST00000569930.1:n.2216A>G
NM_000548.3:c.5101A>G , LRG_487t1:c.5101A>G	NP_000539.2:p.Lys1701Glu
NM_001077183.1:c.4900A>G	NP_001070651.1:p.Lys1634Glu
NM_001114382.1:c.5032A>G	NP_001107854.1:p.Lys1678Glu
XM_005255529.3:c.4972A>G	XP_005255586.2:p.Lys1658Glu
XM_005255531.3:c.4903A>G	XP_005255588.2:p.Lys1635Glu
XM_011522636.1:c.5155A>G	XP_011520938.1:p.Lys1719Glu
XM_011522637.1:c.5152A>G	XP_011520939.1:p.Lys1718Glu
XM_011522638.1:c.5044A>G	XP_011520940.1:p.Lys1682Glu
XM_011522639.1:c.5026A>G	XP_011520941.1:p.Lys1676Glu
XM_011522640.1:c.5023A>G	XP_011520942.1:p.Lys1675Glu
XM_011522641.1:c.4792A>G	XP_011520943.1:p.Lys1598Glu
NM_000548.4:c.5101A>G	NP_000539.2:p.Lys1701Glu
NM_001077183.2:c.4900A>G	NP_001070651.1:p.Lys1634Glu
NM_001114382.2:c.5032A>G	NP_001107854.1:p.Lys1678Glu
NM_001318827.1:c.4792A>G	NP_001305756.1:p.Lys1598Glu
NM_001318829.1:c.4756A>G	NP_001305758.1:p.Lys1586Glu
NM_001318831.1:c.4369A>G	NP_001305760.1:p.Lys1457Glu
NM_001318832.1:c.4933A>G	NP_001305761.1:p.Lys1645Glu
NM_001363528.1:c.4903A>G	NP_001350457.1:p.Lys1635Glu
NM_021055.2:c.4972A>G	NP_066399.2:p.Lys1658Glu
XM_005255531.4:c.4903A>G	XP_005255588.2:p.Lys1635Glu
XM_011522636.2:c.5155A>G	XP_011520938.1:p.Lys1719Glu
XM_011522637.2:c.5152A>G	XP_011520939.1:p.Lys1718Glu
XM_011522638.2:c.5317A>G	XP_011520940.2:p.Lys1773Glu
XM_011522639.2:c.5026A>G	XP_011520941.1:p.Lys1676Glu
XM_011522640.2:c.5023A>G	XP_011520942.1:p.Lys1675Glu
XM_017023615.1:c.5098A>G	XP_016879104.1:p.Lys1700Glu
XM_017023616.1:c.4969A>G	XP_016879105.1:p.Lys1657Glu
XM_017023617.1:c.5065A>G	XP_016879106.1:p.Lys1689Glu
XM_017023618.1:c.3811A>G	XP_016879107.1:p.Lys1271Glu
XM_024450413.1:c.4900A>G	XP_024306181.1:p.Lys1634Glu
NM_000548.5:c.5101A>G MANE Select	NP_000539.2:p.Lys1701Glu
NM_001370404.1:c.4969A>G	NP_001357333.1:p.Lys1657Glu
NM_001370405.1:c.4972A>G	NP_001357334.1:p.Lys1658Glu
NM_001077183.3:c.4900A>G	NP_001070651.1:p.Lys1634Glu
NM_001114382.3:c.5032A>G	NP_001107854.1:p.Lys1678Glu
NM_001318827.2:c.4792A>G	NP_001305756.1:p.Lys1598Glu
NM_001318829.2:c.4756A>G	NP_001305758.1:p.Lys1586Glu
NM_001318831.2:c.4369A>G	NP_001305760.1:p.Lys1457Glu
NM_001318832.2:c.4933A>G	NP_001305761.1:p.Lys1645Glu
NM_001363528.2:c.4903A>G	NP_001350457.1:p.Lys1635Glu
NM_021055.3:c.4972A>G	NP_066399.2:p.Lys1658Glu