Canonical Allele Identifier: CA394315639

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138523A>T (hg19) ; chr16:g.2088522A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088522A>T , CM000678.2:g.2088522A>T	GRCh38
NC_000016.9:g.2138523A>T , CM000678.1:g.2138523A>T	GRCh37
NC_000016.8:g.2078524A>T	NCBI36
NG_005895.1:g.44217A>T , LRG_487:g.44217A>T
NG_008617.1:g.54699T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3685A>T	ENSP00000455997.2:n.*3685A>T
ENST00000642206.2:c.5183A>T	ENSP00000495146.2:p.Gln1728Leu
ENST00000642365.2:c.5333A>T	ENSP00000495459.2:p.Gln1778Leu
ENST00000644417.2:c.*5849A>T	ENSP00000493912.2:n.*5849A>T
ENST00000646464.2:c.*8085A>T	ENSP00000496610.2:n.*8085A>T
ENST00000219476.9:c.5336A>T MANE Select	ENSP00000219476.3:p.Gln1779Leu
ENST00000350773.9:c.5267A>T	ENSP00000344383.4:p.Gln1756Leu
ENST00000401874.7:c.5135A>T	ENSP00000384468.2:p.Gln1712Leu
ENST00000568454.6:c.5168A>T	ENSP00000454487.1:p.Gln1723Leu
ENST00000569110.2:c.1559A>T
ENST00000569930.2:n.3218A>T
ENST00000642365.1:c.3990A>T
ENST00000642561.1:c.5195A>T	ENSP00000495099.1:p.Gln1732Leu
ENST00000642791.1:n.933A>T
ENST00000642797.1:c.5138A>T	ENSP00000493846.1:p.Gln1713Leu
ENST00000642936.1:c.5204A>T	ENSP00000494514.1:p.Gln1735Leu
ENST00000643088.1:c.5129A>T	ENSP00000494747.1:p.Gln1710Leu
ENST00000643426.1:n.2984A>T
ENST00000643946.1:c.5261A>T	ENSP00000495927.1:p.Gln1754Leu
ENST00000644043.1:c.5207A>T	ENSP00000496262.1:p.Gln1736Leu
ENST00000644329.1:c.5222A>T	ENSP00000496611.1:p.Gln1741Leu
ENST00000644335.1:c.5132A>T	ENSP00000496317.1:p.Gln1711Leu
ENST00000644399.1:c.5257A>T
ENST00000645024.1:n.3420A>T
ENST00000646388.1:c.5330A>T	ENSP00000495921.1:p.Gln1777Leu
ENST00000646634.1:n.4151A>T
ENST00000646674.1:n.2588A>T
ENST00000647042.1:n.2559A>T
ENST00000647180.1:n.2449A>T
ENST00000219476.7:c.5336A>T	ENSP00000219476.3:p.Gln1779Leu
ENST00000350773.8:c.5267A>T	ENSP00000344383.4:p.Gln1756Leu
ENST00000382538.10:c.4991A>T	ENSP00000371978.6:p.Gln1664Leu
ENST00000401874.6:c.5135A>T	ENSP00000384468.2:p.Gln1712Leu
ENST00000439117.6:c.*4503A>T	ENSP00000406980.2:n.*4503A>T
ENST00000439673.6:c.5027A>T	ENSP00000399232.2:p.Gln1676Leu
ENST00000497886.5:n.3059A>T
ENST00000568454.5:c.5168A>T	ENSP00000454487.1:p.Gln1723Leu
ENST00000569110.1:c.1518A>T
ENST00000569930.1:n.2451A>T
NM_000548.3:c.5336A>T , LRG_487t1:c.5336A>T	NP_000539.2:p.Gln1779Leu
NM_001077183.1:c.5135A>T	NP_001070651.1:p.Gln1712Leu
NM_001114382.1:c.5267A>T	NP_001107854.1:p.Gln1756Leu
XM_005255529.3:c.5207A>T	XP_005255586.2:p.Gln1736Leu
XM_005255531.3:c.5138A>T	XP_005255588.2:p.Gln1713Leu
XM_011522636.1:c.5390A>T	XP_011520938.1:p.Gln1797Leu
XM_011522637.1:c.5387A>T	XP_011520939.1:p.Gln1796Leu
XM_011522638.1:c.5279A>T	XP_011520940.1:p.Gln1760Leu
XM_011522639.1:c.5261A>T	XP_011520941.1:p.Gln1754Leu
XM_011522640.1:c.5258A>T	XP_011520942.1:p.Gln1753Leu
XM_011522641.1:c.5027A>T	XP_011520943.1:p.Gln1676Leu
NM_000548.4:c.5336A>T	NP_000539.2:p.Gln1779Leu
NM_001077183.2:c.5135A>T	NP_001070651.1:p.Gln1712Leu
NM_001114382.2:c.5267A>T	NP_001107854.1:p.Gln1756Leu
NM_001318827.1:c.5027A>T	NP_001305756.1:p.Gln1676Leu
NM_001318829.1:c.4991A>T	NP_001305758.1:p.Gln1664Leu
NM_001318831.1:c.4604A>T	NP_001305760.1:p.Gln1535Leu
NM_001318832.1:c.5168A>T	NP_001305761.1:p.Gln1723Leu
NM_001363528.1:c.5138A>T	NP_001350457.1:p.Gln1713Leu
NM_021055.2:c.5207A>T	NP_066399.2:p.Gln1736Leu
XM_005255531.4:c.5138A>T	XP_005255588.2:p.Gln1713Leu
XM_011522636.2:c.5390A>T	XP_011520938.1:p.Gln1797Leu
XM_011522637.2:c.5387A>T	XP_011520939.1:p.Gln1796Leu
XM_011522638.2:c.5552A>T	XP_011520940.2:p.Gln1851Leu
XM_011522639.2:c.5261A>T	XP_011520941.1:p.Gln1754Leu
XM_011522640.2:c.5258A>T	XP_011520942.1:p.Gln1753Leu
XM_017023615.1:c.5333A>T	XP_016879104.1:p.Gln1778Leu
XM_017023616.1:c.5204A>T	XP_016879105.1:p.Gln1735Leu
XM_017023617.1:c.5300A>T	XP_016879106.1:p.Gln1767Leu
XM_017023618.1:c.4046A>T	XP_016879107.1:p.Gln1349Leu
XM_024450413.1:c.5222A>T	XP_024306181.1:p.Gln1741Leu
NM_000548.5:c.5336A>T MANE Select	NP_000539.2:p.Gln1779Leu
NM_001370404.1:c.5204A>T	NP_001357333.1:p.Gln1735Leu
NM_001370405.1:c.5195A>T	NP_001357334.1:p.Gln1732Leu
NM_001077183.3:c.5135A>T	NP_001070651.1:p.Gln1712Leu
NM_001114382.3:c.5267A>T	NP_001107854.1:p.Gln1756Leu
NM_001318827.2:c.5027A>T	NP_001305756.1:p.Gln1676Leu
NM_001318829.2:c.4991A>T	NP_001305758.1:p.Gln1664Leu
NM_001318831.2:c.4604A>T	NP_001305760.1:p.Gln1535Leu
NM_001318832.2:c.5168A>T	NP_001305761.1:p.Gln1723Leu
NM_001363528.2:c.5138A>T	NP_001350457.1:p.Gln1713Leu
NM_021055.3:c.5207A>T	NP_066399.2:p.Gln1736Leu