Canonical Allele Identifier: CA394304859

Gene: TSC2

Linked Data

• dbSNP Id: rs2151552478
• MyVariant Identifiers: chr16:g.2135291A>G (hg19) ; chr16:g.2085290A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085290A>G , CM000678.2:g.2085290A>G	GRCh38
NC_000016.9:g.2135291A>G , CM000678.1:g.2135291A>G	GRCh37
NC_000016.8:g.2075292A>G	NCBI36
NG_005895.1:g.40985A>G , LRG_487:g.40985A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2979A>G	ENSP00000455997.2:n.*2979A>G
ENST00000642206.2:c.4477A>G	ENSP00000495146.2:p.Lys1493Glu
ENST00000642365.2:c.4627A>G	ENSP00000495459.2:p.Lys1543Glu
ENST00000644417.2:c.*5010A>G	ENSP00000493912.2:n.*5010A>G
ENST00000646464.2:c.*7379A>G	ENSP00000496610.2:n.*7379A>G
ENST00000219476.9:c.4630A>G MANE Select	ENSP00000219476.3:p.Lys1544Glu
ENST00000350773.9:c.4561A>G	ENSP00000344383.4:p.Lys1521Glu
ENST00000401874.7:c.4429A>G	ENSP00000384468.2:p.Lys1477Glu
ENST00000568454.6:c.4462A>G	ENSP00000454487.1:p.Lys1488Glu
ENST00000569110.2:c.853A>G
ENST00000569930.2:n.2512A>G
ENST00000642365.1:c.3284A>G
ENST00000642561.1:c.4501A>G	ENSP00000495099.1:p.Lys1501Glu
ENST00000642728.1:n.812A>G
ENST00000642791.1:n.227A>G
ENST00000642797.1:c.4432A>G	ENSP00000493846.1:p.Lys1478Glu
ENST00000642936.1:c.4498A>G	ENSP00000494514.1:p.Lys1500Glu
ENST00000643088.1:c.4423A>G	ENSP00000494747.1:p.Lys1475Glu
ENST00000643177.1:n.644A>G
ENST00000643426.1:n.2278A>G
ENST00000643946.1:c.4555A>G	ENSP00000495927.1:p.Lys1519Glu
ENST00000644043.1:c.4501A>G	ENSP00000496262.1:p.Lys1501Glu
ENST00000644278.1:n.112A>G
ENST00000644329.1:c.4429A>G	ENSP00000496611.1:p.Lys1477Glu
ENST00000644335.1:c.4426A>G	ENSP00000496317.1:p.Lys1476Glu
ENST00000644399.1:c.4551A>G
ENST00000645024.1:n.2714A>G
ENST00000646388.1:c.4624A>G	ENSP00000495921.1:p.Lys1542Glu
ENST00000646634.1:n.3445A>G
ENST00000646674.1:n.1882A>G
ENST00000647042.1:n.1853A>G
ENST00000647180.1:n.1743A>G
ENST00000219476.7:c.4630A>G	ENSP00000219476.3:p.Lys1544Glu
ENST00000350773.8:c.4561A>G	ENSP00000344383.4:p.Lys1521Glu
ENST00000382538.10:c.4285A>G	ENSP00000371978.6:p.Lys1429Glu
ENST00000401874.6:c.4429A>G	ENSP00000384468.2:p.Lys1477Glu
ENST00000439117.6:c.*3797A>G	ENSP00000406980.2:n.*3797A>G
ENST00000439673.6:c.4321A>G	ENSP00000399232.2:p.Lys1441Glu
ENST00000497886.5:n.2388A>G
ENST00000568454.5:c.4462A>G	ENSP00000454487.1:p.Lys1488Glu
ENST00000569110.1:c.812A>G
ENST00000569930.1:n.1745A>G
NM_000548.3:c.4630A>G , LRG_487t1:c.4630A>G	NP_000539.2:p.Lys1544Glu
NM_001077183.1:c.4429A>G	NP_001070651.1:p.Lys1477Glu
NM_001114382.1:c.4561A>G	NP_001107854.1:p.Lys1521Glu
XM_005255529.3:c.4501A>G	XP_005255586.2:p.Lys1501Glu
XM_005255531.3:c.4432A>G	XP_005255588.2:p.Lys1478Glu
XM_011522636.1:c.4684A>G	XP_011520938.1:p.Lys1562Glu
XM_011522637.1:c.4681A>G	XP_011520939.1:p.Lys1561Glu
XM_011522638.1:c.4573A>G	XP_011520940.1:p.Lys1525Glu
XM_011522639.1:c.4555A>G	XP_011520941.1:p.Lys1519Glu
XM_011522640.1:c.4552A>G	XP_011520942.1:p.Lys1518Glu
XM_011522641.1:c.4321A>G	XP_011520943.1:p.Lys1441Glu
NM_000548.4:c.4630A>G	NP_000539.2:p.Lys1544Glu
NM_001077183.2:c.4429A>G	NP_001070651.1:p.Lys1477Glu
NM_001114382.2:c.4561A>G	NP_001107854.1:p.Lys1521Glu
NM_001318827.1:c.4321A>G	NP_001305756.1:p.Lys1441Glu
NM_001318829.1:c.4285A>G	NP_001305758.1:p.Lys1429Glu
NM_001318831.1:c.3898A>G	NP_001305760.1:p.Lys1300Glu
NM_001318832.1:c.4462A>G	NP_001305761.1:p.Lys1488Glu
NM_001363528.1:c.4432A>G	NP_001350457.1:p.Lys1478Glu
NM_021055.2:c.4501A>G	NP_066399.2:p.Lys1501Glu
XM_005255531.4:c.4432A>G	XP_005255588.2:p.Lys1478Glu
XM_011522636.2:c.4684A>G	XP_011520938.1:p.Lys1562Glu
XM_011522637.2:c.4681A>G	XP_011520939.1:p.Lys1561Glu
XM_011522638.2:c.4846A>G	XP_011520940.2:p.Lys1616Glu
XM_011522639.2:c.4555A>G	XP_011520941.1:p.Lys1519Glu
XM_011522640.2:c.4552A>G	XP_011520942.1:p.Lys1518Glu
XM_017023615.1:c.4627A>G	XP_016879104.1:p.Lys1543Glu
XM_017023616.1:c.4498A>G	XP_016879105.1:p.Lys1500Glu
XM_017023617.1:c.4594A>G	XP_016879106.1:p.Lys1532Glu
XM_017023618.1:c.3340A>G	XP_016879107.1:p.Lys1114Glu
XM_024450413.1:c.4429A>G	XP_024306181.1:p.Lys1477Glu
NM_000548.5:c.4630A>G MANE Select	NP_000539.2:p.Lys1544Glu
NM_001370404.1:c.4498A>G	NP_001357333.1:p.Lys1500Glu
NM_001370405.1:c.4501A>G	NP_001357334.1:p.Lys1501Glu
NM_001077183.3:c.4429A>G	NP_001070651.1:p.Lys1477Glu
NM_001114382.3:c.4561A>G	NP_001107854.1:p.Lys1521Glu
NM_001318827.2:c.4321A>G	NP_001305756.1:p.Lys1441Glu
NM_001318829.2:c.4285A>G	NP_001305758.1:p.Lys1429Glu
NM_001318831.2:c.3898A>G	NP_001305760.1:p.Lys1300Glu
NM_001318832.2:c.4462A>G	NP_001305761.1:p.Lys1488Glu
NM_001363528.2:c.4432A>G	NP_001350457.1:p.Lys1478Glu
NM_021055.3:c.4501A>G	NP_066399.2:p.Lys1501Glu