Canonical Allele Identifier: CA394302985

Gene: TSC2

Linked Data

• dbSNP Id: rs2090587133
• MyVariant Identifiers: chr16:g.2135005A>T (hg19) ; chr16:g.2085004A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085004A>T , CM000678.2:g.2085004A>T	GRCh38
NC_000016.9:g.2135005A>T , CM000678.1:g.2135005A>T	GRCh37
NC_000016.8:g.2075006A>T	NCBI36
NG_005895.1:g.40699A>T , LRG_487:g.40699A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2896A>T	ENSP00000455997.2:n.*2896A>T
ENST00000642206.2:c.4394A>T	ENSP00000495146.2:p.Lys1465Met
ENST00000642365.2:c.4544A>T	ENSP00000495459.2:p.Lys1515Met
ENST00000644417.2:c.*4927A>T	ENSP00000493912.2:n.*4927A>T
ENST00000646464.2:c.*7296A>T	ENSP00000496610.2:n.*7296A>T
ENST00000219476.9:c.4547A>T MANE Select	ENSP00000219476.3:p.Lys1516Met
ENST00000350773.9:c.4478A>T	ENSP00000344383.4:p.Lys1493Met
ENST00000401874.7:c.4346A>T	ENSP00000384468.2:p.Lys1449Met
ENST00000568454.6:c.4379A>T	ENSP00000454487.1:p.Lys1460Met
ENST00000569110.2:c.770A>T
ENST00000569930.2:n.2429A>T
ENST00000642365.1:c.3201A>T
ENST00000642561.1:c.4418A>T	ENSP00000495099.1:p.Lys1473Met
ENST00000642728.1:n.729A>T
ENST00000642797.1:c.4349A>T	ENSP00000493846.1:p.Lys1450Met
ENST00000642936.1:c.4415A>T	ENSP00000494514.1:p.Lys1472Met
ENST00000643088.1:c.4346A>T	ENSP00000494747.1:p.Lys1449Met
ENST00000643177.1:n.561A>T
ENST00000643426.1:n.2195A>T
ENST00000643946.1:c.4478A>T	ENSP00000495927.1:p.Lys1493Met
ENST00000644043.1:c.4418A>T	ENSP00000496262.1:p.Lys1473Met
ENST00000644329.1:c.4346A>T	ENSP00000496611.1:p.Lys1449Met
ENST00000644335.1:c.4349A>T	ENSP00000496317.1:p.Lys1450Met
ENST00000644399.1:c.4468A>T
ENST00000645024.1:n.2631A>T
ENST00000646388.1:c.4547A>T	ENSP00000495921.1:p.Lys1516Met
ENST00000646634.1:n.3362A>T
ENST00000646674.1:n.1799A>T
ENST00000647042.1:n.1770A>T
ENST00000647180.1:n.1660A>T
ENST00000219476.7:c.4547A>T	ENSP00000219476.3:p.Lys1516Met
ENST00000350773.8:c.4478A>T	ENSP00000344383.4:p.Lys1493Met
ENST00000382538.10:c.4202A>T	ENSP00000371978.6:p.Lys1401Met
ENST00000401874.6:c.4346A>T	ENSP00000384468.2:p.Lys1449Met
ENST00000439117.6:c.*3714A>T	ENSP00000406980.2:n.*3714A>T
ENST00000439673.6:c.4238A>T	ENSP00000399232.2:p.Lys1413Met
ENST00000497886.5:n.2305A>T
ENST00000568454.5:c.4379A>T	ENSP00000454487.1:p.Lys1460Met
ENST00000569110.1:c.729A>T
ENST00000569930.1:n.1662A>T
NM_000548.3:c.4547A>T , LRG_487t1:c.4547A>T	NP_000539.2:p.Lys1516Met
NM_001077183.1:c.4346A>T	NP_001070651.1:p.Lys1449Met
NM_001114382.1:c.4478A>T	NP_001107854.1:p.Lys1493Met
XM_005255529.3:c.4418A>T	XP_005255586.2:p.Lys1473Met
XM_005255531.3:c.4349A>T	XP_005255588.2:p.Lys1450Met
XM_011522636.1:c.4601A>T	XP_011520938.1:p.Lys1534Met
XM_011522637.1:c.4598A>T	XP_011520939.1:p.Lys1533Met
XM_011522638.1:c.4490A>T	XP_011520940.1:p.Lys1497Met
XM_011522639.1:c.4472A>T	XP_011520941.1:p.Lys1491Met
XM_011522640.1:c.4469A>T	XP_011520942.1:p.Lys1490Met
XM_011522641.1:c.4238A>T	XP_011520943.1:p.Lys1413Met
NM_000548.4:c.4547A>T	NP_000539.2:p.Lys1516Met
NM_001077183.2:c.4346A>T	NP_001070651.1:p.Lys1449Met
NM_001114382.2:c.4478A>T	NP_001107854.1:p.Lys1493Met
NM_001318827.1:c.4238A>T	NP_001305756.1:p.Lys1413Met
NM_001318829.1:c.4202A>T	NP_001305758.1:p.Lys1401Met
NM_001318831.1:c.3815A>T	NP_001305760.1:p.Lys1272Met
NM_001318832.1:c.4379A>T	NP_001305761.1:p.Lys1460Met
NM_001363528.1:c.4349A>T	NP_001350457.1:p.Lys1450Met
NM_021055.2:c.4418A>T	NP_066399.2:p.Lys1473Met
XM_005255531.4:c.4349A>T	XP_005255588.2:p.Lys1450Met
XM_011522636.2:c.4601A>T	XP_011520938.1:p.Lys1534Met
XM_011522637.2:c.4598A>T	XP_011520939.1:p.Lys1533Met
XM_011522638.2:c.4763A>T	XP_011520940.2:p.Lys1588Met
XM_011522639.2:c.4472A>T	XP_011520941.1:p.Lys1491Met
XM_011522640.2:c.4469A>T	XP_011520942.1:p.Lys1490Met
XM_017023615.1:c.4544A>T	XP_016879104.1:p.Lys1515Met
XM_017023616.1:c.4415A>T	XP_016879105.1:p.Lys1472Met
XM_017023617.1:c.4511A>T	XP_016879106.1:p.Lys1504Met
XM_017023618.1:c.3257A>T	XP_016879107.1:p.Lys1086Met
XM_024450413.1:c.4346A>T	XP_024306181.1:p.Lys1449Met
NM_000548.5:c.4547A>T MANE Select	NP_000539.2:p.Lys1516Met
NM_001370404.1:c.4415A>T	NP_001357333.1:p.Lys1472Met
NM_001370405.1:c.4418A>T	NP_001357334.1:p.Lys1473Met
NM_001077183.3:c.4346A>T	NP_001070651.1:p.Lys1449Met
NM_001114382.3:c.4478A>T	NP_001107854.1:p.Lys1493Met
NM_001318827.2:c.4238A>T	NP_001305756.1:p.Lys1413Met
NM_001318829.2:c.4202A>T	NP_001305758.1:p.Lys1401Met
NM_001318831.2:c.3815A>T	NP_001305760.1:p.Lys1272Met
NM_001318832.2:c.4379A>T	NP_001305761.1:p.Lys1460Met
NM_001363528.2:c.4349A>T	NP_001350457.1:p.Lys1450Met
NM_021055.3:c.4418A>T	NP_066399.2:p.Lys1473Met