Canonical Allele Identifier: CA493043442

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135009A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085008A>G , CM000678.2:g.2085008A>G	GRCh38
NC_000016.9:g.2135009A>G , CM000678.1:g.2135009A>G	GRCh37
NC_000016.8:g.2075010A>G	NCBI36
NG_005895.1:g.40703A>G , LRG_487:g.40703A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2900A>G	ENSP00000455997.2:n.*2900A>G
ENST00000642206.2:c.4398A>G	ENSP00000495146.2:p.Pro1466=
ENST00000642365.2:c.4548A>G	ENSP00000495459.2:p.Pro1516=
ENST00000644417.2:c.*4931A>G	ENSP00000493912.2:n.*4931A>G
ENST00000646464.2:c.*7300A>G	ENSP00000496610.2:n.*7300A>G
ENST00000219476.9:c.4551A>G MANE Select	ENSP00000219476.3:p.Pro1517=
ENST00000350773.9:c.4482A>G	ENSP00000344383.4:p.Pro1494=
ENST00000401874.7:c.4350A>G	ENSP00000384468.2:p.Pro1450=
ENST00000568454.6:c.4383A>G	ENSP00000454487.1:p.Pro1461=
ENST00000569110.2:c.774A>G
ENST00000569930.2:n.2433A>G
ENST00000642365.1:c.3205A>G
ENST00000642561.1:c.4422A>G	ENSP00000495099.1:p.Pro1474=
ENST00000642728.1:n.733A>G
ENST00000642797.1:c.4353A>G	ENSP00000493846.1:p.Pro1451=
ENST00000642936.1:c.4419A>G	ENSP00000494514.1:p.Pro1473=
ENST00000643088.1:c.4350A>G	ENSP00000494747.1:p.Pro1450=
ENST00000643177.1:n.565A>G
ENST00000643426.1:n.2199A>G
ENST00000643946.1:c.4482A>G	ENSP00000495927.1:p.Pro1494=
ENST00000644043.1:c.4422A>G	ENSP00000496262.1:p.Pro1474=
ENST00000644329.1:c.4350A>G	ENSP00000496611.1:p.Pro1450=
ENST00000644335.1:c.4353A>G	ENSP00000496317.1:p.Pro1451=
ENST00000644399.1:c.4472A>G
ENST00000645024.1:n.2635A>G
ENST00000646388.1:c.4551A>G	ENSP00000495921.1:p.Pro1517=
ENST00000646634.1:n.3366A>G
ENST00000646674.1:n.1803A>G
ENST00000647042.1:n.1774A>G
ENST00000647180.1:n.1664A>G
ENST00000219476.7:c.4551A>G	ENSP00000219476.3:p.Pro1517=
ENST00000350773.8:c.4482A>G	ENSP00000344383.4:p.Pro1494=
ENST00000382538.10:c.4206A>G	ENSP00000371978.6:p.Pro1402=
ENST00000401874.6:c.4350A>G	ENSP00000384468.2:p.Pro1450=
ENST00000439117.6:c.*3718A>G	ENSP00000406980.2:n.*3718A>G
ENST00000439673.6:c.4242A>G	ENSP00000399232.2:p.Pro1414=
ENST00000497886.5:n.2309A>G
ENST00000568454.5:c.4383A>G	ENSP00000454487.1:p.Pro1461=
ENST00000569110.1:c.733A>G
ENST00000569930.1:n.1666A>G
NM_000548.3:c.4551A>G , LRG_487t1:c.4551A>G	NP_000539.2:p.Pro1517=
NM_001077183.1:c.4350A>G	NP_001070651.1:p.Pro1450=
NM_001114382.1:c.4482A>G	NP_001107854.1:p.Pro1494=
XM_005255529.3:c.4422A>G	XP_005255586.2:p.Pro1474=
XM_005255531.3:c.4353A>G	XP_005255588.2:p.Pro1451=
XM_011522636.1:c.4605A>G	XP_011520938.1:p.Pro1535=
XM_011522637.1:c.4602A>G	XP_011520939.1:p.Pro1534=
XM_011522638.1:c.4494A>G	XP_011520940.1:p.Pro1498=
XM_011522639.1:c.4476A>G	XP_011520941.1:p.Pro1492=
XM_011522640.1:c.4473A>G	XP_011520942.1:p.Pro1491=
XM_011522641.1:c.4242A>G	XP_011520943.1:p.Pro1414=
NM_000548.4:c.4551A>G	NP_000539.2:p.Pro1517=
NM_001077183.2:c.4350A>G	NP_001070651.1:p.Pro1450=
NM_001114382.2:c.4482A>G	NP_001107854.1:p.Pro1494=
NM_001318827.1:c.4242A>G	NP_001305756.1:p.Pro1414=
NM_001318829.1:c.4206A>G	NP_001305758.1:p.Pro1402=
NM_001318831.1:c.3819A>G	NP_001305760.1:p.Pro1273=
NM_001318832.1:c.4383A>G	NP_001305761.1:p.Pro1461=
NM_001363528.1:c.4353A>G	NP_001350457.1:p.Pro1451=
NM_021055.2:c.4422A>G	NP_066399.2:p.Pro1474=
XM_005255531.4:c.4353A>G	XP_005255588.2:p.Pro1451=
XM_011522636.2:c.4605A>G	XP_011520938.1:p.Pro1535=
XM_011522637.2:c.4602A>G	XP_011520939.1:p.Pro1534=
XM_011522638.2:c.4767A>G	XP_011520940.2:p.Pro1589=
XM_011522639.2:c.4476A>G	XP_011520941.1:p.Pro1492=
XM_011522640.2:c.4473A>G	XP_011520942.1:p.Pro1491=
XM_017023615.1:c.4548A>G	XP_016879104.1:p.Pro1516=
XM_017023616.1:c.4419A>G	XP_016879105.1:p.Pro1473=
XM_017023617.1:c.4515A>G	XP_016879106.1:p.Pro1505=
XM_017023618.1:c.3261A>G	XP_016879107.1:p.Pro1087=
XM_024450413.1:c.4350A>G	XP_024306181.1:p.Pro1450=
NM_000548.5:c.4551A>G MANE Select	NP_000539.2:p.Pro1517=
NM_001370404.1:c.4419A>G	NP_001357333.1:p.Pro1473=
NM_001370405.1:c.4422A>G	NP_001357334.1:p.Pro1474=
NM_001077183.3:c.4350A>G	NP_001070651.1:p.Pro1450=
NM_001114382.3:c.4482A>G	NP_001107854.1:p.Pro1494=
NM_001318827.2:c.4242A>G	NP_001305756.1:p.Pro1414=
NM_001318829.2:c.4206A>G	NP_001305758.1:p.Pro1402=
NM_001318831.2:c.3819A>G	NP_001305760.1:p.Pro1273=
NM_001318832.2:c.4383A>G	NP_001305761.1:p.Pro1461=
NM_001363528.2:c.4353A>G	NP_001350457.1:p.Pro1451=
NM_021055.3:c.4422A>G	NP_066399.2:p.Pro1474=