Canonical Allele Identifier: CA394315454

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138502C>A (hg19) ; chr16:g.2088501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088501C>A , CM000678.2:g.2088501C>A	GRCh38
NC_000016.9:g.2138502C>A , CM000678.1:g.2138502C>A	GRCh37
NC_000016.8:g.2078503C>A	NCBI36
NG_005895.1:g.44196C>A , LRG_487:g.44196C>A
NG_008617.1:g.54720G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3664C>A	ENSP00000455997.2:n.*3664C>A
ENST00000642206.2:c.5162C>A	ENSP00000495146.2:p.Ser1721Tyr
ENST00000642365.2:c.5312C>A	ENSP00000495459.2:p.Ser1771Tyr
ENST00000644417.2:c.*5828C>A	ENSP00000493912.2:n.*5828C>A
ENST00000646464.2:c.*8064C>A	ENSP00000496610.2:n.*8064C>A
ENST00000219476.9:c.5315C>A MANE Select	ENSP00000219476.3:p.Ser1772Tyr
ENST00000350773.9:c.5246C>A	ENSP00000344383.4:p.Ser1749Tyr
ENST00000401874.7:c.5114C>A	ENSP00000384468.2:p.Ser1705Tyr
ENST00000568454.6:c.5147C>A	ENSP00000454487.1:p.Ser1716Tyr
ENST00000569110.2:c.1538C>A
ENST00000569930.2:n.3197C>A
ENST00000642365.1:c.3969C>A
ENST00000642561.1:c.5174C>A	ENSP00000495099.1:p.Ser1725Tyr
ENST00000642791.1:n.912C>A
ENST00000642797.1:c.5117C>A	ENSP00000493846.1:p.Ser1706Tyr
ENST00000642936.1:c.5183C>A	ENSP00000494514.1:p.Ser1728Tyr
ENST00000643088.1:c.5108C>A	ENSP00000494747.1:p.Ser1703Tyr
ENST00000643426.1:n.2963C>A
ENST00000643946.1:c.5240C>A	ENSP00000495927.1:p.Ser1747Tyr
ENST00000644043.1:c.5186C>A	ENSP00000496262.1:p.Ser1729Tyr
ENST00000644329.1:c.5201C>A	ENSP00000496611.1:p.Ser1734Tyr
ENST00000644335.1:c.5111C>A	ENSP00000496317.1:p.Ser1704Tyr
ENST00000644399.1:c.5236C>A
ENST00000645024.1:n.3399C>A
ENST00000646388.1:c.5309C>A	ENSP00000495921.1:p.Ser1770Tyr
ENST00000646634.1:n.4130C>A
ENST00000646674.1:n.2567C>A
ENST00000647042.1:n.2538C>A
ENST00000647180.1:n.2428C>A
ENST00000219476.7:c.5315C>A	ENSP00000219476.3:p.Ser1772Tyr
ENST00000350773.8:c.5246C>A	ENSP00000344383.4:p.Ser1749Tyr
ENST00000382538.10:c.4970C>A	ENSP00000371978.6:p.Ser1657Tyr
ENST00000401874.6:c.5114C>A	ENSP00000384468.2:p.Ser1705Tyr
ENST00000439117.6:c.*4482C>A	ENSP00000406980.2:n.*4482C>A
ENST00000439673.6:c.5006C>A	ENSP00000399232.2:p.Ser1669Tyr
ENST00000497886.5:n.3038C>A
ENST00000568454.5:c.5147C>A	ENSP00000454487.1:p.Ser1716Tyr
ENST00000569110.1:c.1497C>A
ENST00000569930.1:n.2430C>A
NM_000548.3:c.5315C>A , LRG_487t1:c.5315C>A	NP_000539.2:p.Ser1772Tyr
NM_001077183.1:c.5114C>A	NP_001070651.1:p.Ser1705Tyr
NM_001114382.1:c.5246C>A	NP_001107854.1:p.Ser1749Tyr
XM_005255529.3:c.5186C>A	XP_005255586.2:p.Ser1729Tyr
XM_005255531.3:c.5117C>A	XP_005255588.2:p.Ser1706Tyr
XM_011522636.1:c.5369C>A	XP_011520938.1:p.Ser1790Tyr
XM_011522637.1:c.5366C>A	XP_011520939.1:p.Ser1789Tyr
XM_011522638.1:c.5258C>A	XP_011520940.1:p.Ser1753Tyr
XM_011522639.1:c.5240C>A	XP_011520941.1:p.Ser1747Tyr
XM_011522640.1:c.5237C>A	XP_011520942.1:p.Ser1746Tyr
XM_011522641.1:c.5006C>A	XP_011520943.1:p.Ser1669Tyr
NM_000548.4:c.5315C>A	NP_000539.2:p.Ser1772Tyr
NM_001077183.2:c.5114C>A	NP_001070651.1:p.Ser1705Tyr
NM_001114382.2:c.5246C>A	NP_001107854.1:p.Ser1749Tyr
NM_001318827.1:c.5006C>A	NP_001305756.1:p.Ser1669Tyr
NM_001318829.1:c.4970C>A	NP_001305758.1:p.Ser1657Tyr
NM_001318831.1:c.4583C>A	NP_001305760.1:p.Ser1528Tyr
NM_001318832.1:c.5147C>A	NP_001305761.1:p.Ser1716Tyr
NM_001363528.1:c.5117C>A	NP_001350457.1:p.Ser1706Tyr
NM_021055.2:c.5186C>A	NP_066399.2:p.Ser1729Tyr
XM_005255531.4:c.5117C>A	XP_005255588.2:p.Ser1706Tyr
XM_011522636.2:c.5369C>A	XP_011520938.1:p.Ser1790Tyr
XM_011522637.2:c.5366C>A	XP_011520939.1:p.Ser1789Tyr
XM_011522638.2:c.5531C>A	XP_011520940.2:p.Ser1844Tyr
XM_011522639.2:c.5240C>A	XP_011520941.1:p.Ser1747Tyr
XM_011522640.2:c.5237C>A	XP_011520942.1:p.Ser1746Tyr
XM_017023615.1:c.5312C>A	XP_016879104.1:p.Ser1771Tyr
XM_017023616.1:c.5183C>A	XP_016879105.1:p.Ser1728Tyr
XM_017023617.1:c.5279C>A	XP_016879106.1:p.Ser1760Tyr
XM_017023618.1:c.4025C>A	XP_016879107.1:p.Ser1342Tyr
XM_024450413.1:c.5201C>A	XP_024306181.1:p.Ser1734Tyr
NM_000548.5:c.5315C>A MANE Select	NP_000539.2:p.Ser1772Tyr
NM_001370404.1:c.5183C>A	NP_001357333.1:p.Ser1728Tyr
NM_001370405.1:c.5174C>A	NP_001357334.1:p.Ser1725Tyr
NM_001077183.3:c.5114C>A	NP_001070651.1:p.Ser1705Tyr
NM_001114382.3:c.5246C>A	NP_001107854.1:p.Ser1749Tyr
NM_001318827.2:c.5006C>A	NP_001305756.1:p.Ser1669Tyr
NM_001318829.2:c.4970C>A	NP_001305758.1:p.Ser1657Tyr
NM_001318831.2:c.4583C>A	NP_001305760.1:p.Ser1528Tyr
NM_001318832.2:c.5147C>A	NP_001305761.1:p.Ser1716Tyr
NM_001363528.2:c.5117C>A	NP_001350457.1:p.Ser1706Tyr
NM_021055.3:c.5186C>A	NP_066399.2:p.Ser1729Tyr