Canonical Allele Identifier: CA492958755

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135314A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085313A>C , CM000678.2:g.2085313A>C	GRCh38
NC_000016.9:g.2135314A>C , CM000678.1:g.2135314A>C	GRCh37
NC_000016.8:g.2075315A>C	NCBI36
NG_005895.1:g.41008A>C , LRG_487:g.41008A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3002A>C	ENSP00000455997.2:n.*3002A>C
ENST00000642206.2:c.4500A>C	ENSP00000495146.2:p.Gly1500=
ENST00000642365.2:c.4650A>C	ENSP00000495459.2:p.Gly1550=
ENST00000644417.2:c.*5033A>C	ENSP00000493912.2:n.*5033A>C
ENST00000646464.2:c.*7402A>C	ENSP00000496610.2:n.*7402A>C
ENST00000219476.9:c.4653A>C MANE Select	ENSP00000219476.3:p.Gly1551=
ENST00000350773.9:c.4584A>C	ENSP00000344383.4:p.Gly1528=
ENST00000401874.7:c.4452A>C	ENSP00000384468.2:p.Gly1484=
ENST00000568454.6:c.4485A>C	ENSP00000454487.1:p.Gly1495=
ENST00000569110.2:c.876A>C
ENST00000569930.2:n.2535A>C
ENST00000642365.1:c.3307A>C
ENST00000642561.1:c.4524A>C	ENSP00000495099.1:p.Gly1508=
ENST00000642728.1:n.835A>C
ENST00000642791.1:n.250A>C
ENST00000642797.1:c.4455A>C	ENSP00000493846.1:p.Gly1485=
ENST00000642936.1:c.4521A>C	ENSP00000494514.1:p.Gly1507=
ENST00000643088.1:c.4446A>C	ENSP00000494747.1:p.Gly1482=
ENST00000643177.1:n.667A>C
ENST00000643426.1:n.2301A>C
ENST00000643946.1:c.4578A>C	ENSP00000495927.1:p.Gly1526=
ENST00000644043.1:c.4524A>C	ENSP00000496262.1:p.Gly1508=
ENST00000644278.1:n.135A>C
ENST00000644329.1:c.4452A>C	ENSP00000496611.1:p.Gly1484=
ENST00000644335.1:c.4449A>C	ENSP00000496317.1:p.Gly1483=
ENST00000644399.1:c.4574A>C
ENST00000645024.1:n.2737A>C
ENST00000646388.1:c.4647A>C	ENSP00000495921.1:p.Gly1549=
ENST00000646634.1:n.3468A>C
ENST00000646674.1:n.1905A>C
ENST00000647042.1:n.1876A>C
ENST00000647180.1:n.1766A>C
ENST00000219476.7:c.4653A>C	ENSP00000219476.3:p.Gly1551=
ENST00000350773.8:c.4584A>C	ENSP00000344383.4:p.Gly1528=
ENST00000382538.10:c.4308A>C	ENSP00000371978.6:p.Gly1436=
ENST00000401874.6:c.4452A>C	ENSP00000384468.2:p.Gly1484=
ENST00000439117.6:c.*3820A>C	ENSP00000406980.2:n.*3820A>C
ENST00000439673.6:c.4344A>C	ENSP00000399232.2:p.Gly1448=
ENST00000497886.5:n.2411A>C
ENST00000568454.5:c.4485A>C	ENSP00000454487.1:p.Gly1495=
ENST00000569110.1:c.835A>C
ENST00000569930.1:n.1768A>C
NM_000548.3:c.4653A>C , LRG_487t1:c.4653A>C	NP_000539.2:p.Gly1551=
NM_001077183.1:c.4452A>C	NP_001070651.1:p.Gly1484=
NM_001114382.1:c.4584A>C	NP_001107854.1:p.Gly1528=
XM_005255529.3:c.4524A>C	XP_005255586.2:p.Gly1508=
XM_005255531.3:c.4455A>C	XP_005255588.2:p.Gly1485=
XM_011522636.1:c.4707A>C	XP_011520938.1:p.Gly1569=
XM_011522637.1:c.4704A>C	XP_011520939.1:p.Gly1568=
XM_011522638.1:c.4596A>C	XP_011520940.1:p.Gly1532=
XM_011522639.1:c.4578A>C	XP_011520941.1:p.Gly1526=
XM_011522640.1:c.4575A>C	XP_011520942.1:p.Gly1525=
XM_011522641.1:c.4344A>C	XP_011520943.1:p.Gly1448=
NM_000548.4:c.4653A>C	NP_000539.2:p.Gly1551=
NM_001077183.2:c.4452A>C	NP_001070651.1:p.Gly1484=
NM_001114382.2:c.4584A>C	NP_001107854.1:p.Gly1528=
NM_001318827.1:c.4344A>C	NP_001305756.1:p.Gly1448=
NM_001318829.1:c.4308A>C	NP_001305758.1:p.Gly1436=
NM_001318831.1:c.3921A>C	NP_001305760.1:p.Gly1307=
NM_001318832.1:c.4485A>C	NP_001305761.1:p.Gly1495=
NM_001363528.1:c.4455A>C	NP_001350457.1:p.Gly1485=
NM_021055.2:c.4524A>C	NP_066399.2:p.Gly1508=
XM_005255531.4:c.4455A>C	XP_005255588.2:p.Gly1485=
XM_011522636.2:c.4707A>C	XP_011520938.1:p.Gly1569=
XM_011522637.2:c.4704A>C	XP_011520939.1:p.Gly1568=
XM_011522638.2:c.4869A>C	XP_011520940.2:p.Gly1623=
XM_011522639.2:c.4578A>C	XP_011520941.1:p.Gly1526=
XM_011522640.2:c.4575A>C	XP_011520942.1:p.Gly1525=
XM_017023615.1:c.4650A>C	XP_016879104.1:p.Gly1550=
XM_017023616.1:c.4521A>C	XP_016879105.1:p.Gly1507=
XM_017023617.1:c.4617A>C	XP_016879106.1:p.Gly1539=
XM_017023618.1:c.3363A>C	XP_016879107.1:p.Gly1121=
XM_024450413.1:c.4452A>C	XP_024306181.1:p.Gly1484=
NM_000548.5:c.4653A>C MANE Select	NP_000539.2:p.Gly1551=
NM_001370404.1:c.4521A>C	NP_001357333.1:p.Gly1507=
NM_001370405.1:c.4524A>C	NP_001357334.1:p.Gly1508=
NM_001077183.3:c.4452A>C	NP_001070651.1:p.Gly1484=
NM_001114382.3:c.4584A>C	NP_001107854.1:p.Gly1528=
NM_001318827.2:c.4344A>C	NP_001305756.1:p.Gly1448=
NM_001318829.2:c.4308A>C	NP_001305758.1:p.Gly1436=
NM_001318831.2:c.3921A>C	NP_001305760.1:p.Gly1307=
NM_001318832.2:c.4485A>C	NP_001305761.1:p.Gly1495=
NM_001363528.2:c.4455A>C	NP_001350457.1:p.Gly1485=
NM_021055.3:c.4524A>C	NP_066399.2:p.Gly1508=