Canonical Allele Identifier: CA394304693

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135270A>G (hg19) ; chr16:g.2085269A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085269A>G , CM000678.2:g.2085269A>G	GRCh38
NC_000016.9:g.2135270A>G , CM000678.1:g.2135270A>G	GRCh37
NC_000016.8:g.2075271A>G	NCBI36
NG_005895.1:g.40964A>G , LRG_487:g.40964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2958A>G	ENSP00000455997.2:n.*2958A>G
ENST00000642206.2:c.4456A>G	ENSP00000495146.2:p.Ile1486Val
ENST00000642365.2:c.4606A>G	ENSP00000495459.2:p.Ile1536Val
ENST00000644417.2:c.*4989A>G	ENSP00000493912.2:n.*4989A>G
ENST00000646464.2:c.*7358A>G	ENSP00000496610.2:n.*7358A>G
ENST00000219476.9:c.4609A>G MANE Select	ENSP00000219476.3:p.Ile1537Val
ENST00000350773.9:c.4540A>G	ENSP00000344383.4:p.Ile1514Val
ENST00000401874.7:c.4408A>G	ENSP00000384468.2:p.Ile1470Val
ENST00000568454.6:c.4441A>G	ENSP00000454487.1:p.Ile1481Val
ENST00000569110.2:c.832A>G
ENST00000569930.2:n.2491A>G
ENST00000642365.1:c.3263A>G
ENST00000642561.1:c.4480A>G	ENSP00000495099.1:p.Ile1494Val
ENST00000642728.1:n.791A>G
ENST00000642791.1:n.206A>G
ENST00000642797.1:c.4411A>G	ENSP00000493846.1:p.Ile1471Val
ENST00000642936.1:c.4477A>G	ENSP00000494514.1:p.Ile1493Val
ENST00000643088.1:c.4402A>G	ENSP00000494747.1:p.Ile1468Val
ENST00000643177.1:n.623A>G
ENST00000643426.1:n.2257A>G
ENST00000643946.1:c.4534A>G	ENSP00000495927.1:p.Ile1512Val
ENST00000644043.1:c.4480A>G	ENSP00000496262.1:p.Ile1494Val
ENST00000644278.1:n.91A>G
ENST00000644329.1:c.4408A>G	ENSP00000496611.1:p.Ile1470Val
ENST00000644335.1:c.4405A>G	ENSP00000496317.1:p.Ile1469Val
ENST00000644399.1:c.4530A>G
ENST00000645024.1:n.2693A>G
ENST00000646388.1:c.4603A>G	ENSP00000495921.1:p.Ile1535Val
ENST00000646634.1:n.3424A>G
ENST00000646674.1:n.1861A>G
ENST00000647042.1:n.1832A>G
ENST00000647180.1:n.1722A>G
ENST00000219476.7:c.4609A>G	ENSP00000219476.3:p.Ile1537Val
ENST00000350773.8:c.4540A>G	ENSP00000344383.4:p.Ile1514Val
ENST00000382538.10:c.4264A>G	ENSP00000371978.6:p.Ile1422Val
ENST00000401874.6:c.4408A>G	ENSP00000384468.2:p.Ile1470Val
ENST00000439117.6:c.*3776A>G	ENSP00000406980.2:n.*3776A>G
ENST00000439673.6:c.4300A>G	ENSP00000399232.2:p.Ile1434Val
ENST00000497886.5:n.2367A>G
ENST00000568454.5:c.4441A>G	ENSP00000454487.1:p.Ile1481Val
ENST00000569110.1:c.791A>G
ENST00000569930.1:n.1724A>G
NM_000548.3:c.4609A>G , LRG_487t1:c.4609A>G	NP_000539.2:p.Ile1537Val
NM_001077183.1:c.4408A>G	NP_001070651.1:p.Ile1470Val
NM_001114382.1:c.4540A>G	NP_001107854.1:p.Ile1514Val
XM_005255529.3:c.4480A>G	XP_005255586.2:p.Ile1494Val
XM_005255531.3:c.4411A>G	XP_005255588.2:p.Ile1471Val
XM_011522636.1:c.4663A>G	XP_011520938.1:p.Ile1555Val
XM_011522637.1:c.4660A>G	XP_011520939.1:p.Ile1554Val
XM_011522638.1:c.4552A>G	XP_011520940.1:p.Ile1518Val
XM_011522639.1:c.4534A>G	XP_011520941.1:p.Ile1512Val
XM_011522640.1:c.4531A>G	XP_011520942.1:p.Ile1511Val
XM_011522641.1:c.4300A>G	XP_011520943.1:p.Ile1434Val
NM_000548.4:c.4609A>G	NP_000539.2:p.Ile1537Val
NM_001077183.2:c.4408A>G	NP_001070651.1:p.Ile1470Val
NM_001114382.2:c.4540A>G	NP_001107854.1:p.Ile1514Val
NM_001318827.1:c.4300A>G	NP_001305756.1:p.Ile1434Val
NM_001318829.1:c.4264A>G	NP_001305758.1:p.Ile1422Val
NM_001318831.1:c.3877A>G	NP_001305760.1:p.Ile1293Val
NM_001318832.1:c.4441A>G	NP_001305761.1:p.Ile1481Val
NM_001363528.1:c.4411A>G	NP_001350457.1:p.Ile1471Val
NM_021055.2:c.4480A>G	NP_066399.2:p.Ile1494Val
XM_005255531.4:c.4411A>G	XP_005255588.2:p.Ile1471Val
XM_011522636.2:c.4663A>G	XP_011520938.1:p.Ile1555Val
XM_011522637.2:c.4660A>G	XP_011520939.1:p.Ile1554Val
XM_011522638.2:c.4825A>G	XP_011520940.2:p.Ile1609Val
XM_011522639.2:c.4534A>G	XP_011520941.1:p.Ile1512Val
XM_011522640.2:c.4531A>G	XP_011520942.1:p.Ile1511Val
XM_017023615.1:c.4606A>G	XP_016879104.1:p.Ile1536Val
XM_017023616.1:c.4477A>G	XP_016879105.1:p.Ile1493Val
XM_017023617.1:c.4573A>G	XP_016879106.1:p.Ile1525Val
XM_017023618.1:c.3319A>G	XP_016879107.1:p.Ile1107Val
XM_024450413.1:c.4408A>G	XP_024306181.1:p.Ile1470Val
NM_000548.5:c.4609A>G MANE Select	NP_000539.2:p.Ile1537Val
NM_001370404.1:c.4477A>G	NP_001357333.1:p.Ile1493Val
NM_001370405.1:c.4480A>G	NP_001357334.1:p.Ile1494Val
NM_001077183.3:c.4408A>G	NP_001070651.1:p.Ile1470Val
NM_001114382.3:c.4540A>G	NP_001107854.1:p.Ile1514Val
NM_001318827.2:c.4300A>G	NP_001305756.1:p.Ile1434Val
NM_001318829.2:c.4264A>G	NP_001305758.1:p.Ile1422Val
NM_001318831.2:c.3877A>G	NP_001305760.1:p.Ile1293Val
NM_001318832.2:c.4441A>G	NP_001305761.1:p.Ile1481Val
NM_001363528.2:c.4411A>G	NP_001350457.1:p.Ile1471Val
NM_021055.3:c.4480A>G	NP_066399.2:p.Ile1494Val