Canonical Allele Identifier: CA394304691

Gene: TSC2

Linked Data

• dbSNP Id: rs2151551715
• MyVariant Identifiers: chr16:g.2135270A>C (hg19) ; chr16:g.2085269A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2958A>C	ENSP00000455997.2:n.*2958A>C
ENST00000642206.2:c.4456A>C	ENSP00000495146.2:p.Ile1486Leu
ENST00000642365.2:c.4606A>C	ENSP00000495459.2:p.Ile1536Leu
ENST00000644417.2:c.*4989A>C	ENSP00000493912.2:n.*4989A>C
ENST00000646464.2:c.*7358A>C	ENSP00000496610.2:n.*7358A>C
ENST00000219476.9:c.4609A>C MANE Select	ENSP00000219476.3:p.Ile1537Leu
ENST00000350773.9:c.4540A>C	ENSP00000344383.4:p.Ile1514Leu
ENST00000401874.7:c.4408A>C	ENSP00000384468.2:p.Ile1470Leu
ENST00000568454.6:c.4441A>C	ENSP00000454487.1:p.Ile1481Leu
ENST00000569110.2:c.832A>C
ENST00000569930.2:n.2491A>C
ENST00000642365.1:c.3263A>C
ENST00000642561.1:c.4480A>C	ENSP00000495099.1:p.Ile1494Leu
ENST00000642728.1:n.791A>C
ENST00000642791.1:n.206A>C
ENST00000642797.1:c.4411A>C	ENSP00000493846.1:p.Ile1471Leu
ENST00000642936.1:c.4477A>C	ENSP00000494514.1:p.Ile1493Leu
ENST00000643088.1:c.4402A>C	ENSP00000494747.1:p.Ile1468Leu
ENST00000643177.1:n.623A>C
ENST00000643426.1:n.2257A>C
ENST00000643946.1:c.4534A>C	ENSP00000495927.1:p.Ile1512Leu
ENST00000644043.1:c.4480A>C	ENSP00000496262.1:p.Ile1494Leu
ENST00000644278.1:n.91A>C
ENST00000644329.1:c.4408A>C	ENSP00000496611.1:p.Ile1470Leu
ENST00000644335.1:c.4405A>C	ENSP00000496317.1:p.Ile1469Leu
ENST00000644399.1:c.4530A>C
ENST00000645024.1:n.2693A>C
ENST00000646388.1:c.4603A>C	ENSP00000495921.1:p.Ile1535Leu
ENST00000646634.1:n.3424A>C
ENST00000646674.1:n.1861A>C
ENST00000647042.1:n.1832A>C
ENST00000647180.1:n.1722A>C
ENST00000219476.7:c.4609A>C	ENSP00000219476.3:p.Ile1537Leu
ENST00000350773.8:c.4540A>C	ENSP00000344383.4:p.Ile1514Leu
ENST00000382538.10:c.4264A>C	ENSP00000371978.6:p.Ile1422Leu
ENST00000401874.6:c.4408A>C	ENSP00000384468.2:p.Ile1470Leu
ENST00000439117.6:c.*3776A>C	ENSP00000406980.2:n.*3776A>C
ENST00000439673.6:c.4300A>C	ENSP00000399232.2:p.Ile1434Leu
ENST00000497886.5:n.2367A>C
ENST00000568454.5:c.4441A>C	ENSP00000454487.1:p.Ile1481Leu
ENST00000569110.1:c.791A>C
ENST00000569930.1:n.1724A>C
NM_000548.3:c.4609A>C , LRG_487t1:c.4609A>C	NP_000539.2:p.Ile1537Leu
NM_001077183.1:c.4408A>C	NP_001070651.1:p.Ile1470Leu
NM_001114382.1:c.4540A>C	NP_001107854.1:p.Ile1514Leu
XM_005255529.3:c.4480A>C	XP_005255586.2:p.Ile1494Leu
XM_005255531.3:c.4411A>C	XP_005255588.2:p.Ile1471Leu
XM_011522636.1:c.4663A>C	XP_011520938.1:p.Ile1555Leu
XM_011522637.1:c.4660A>C	XP_011520939.1:p.Ile1554Leu
XM_011522638.1:c.4552A>C	XP_011520940.1:p.Ile1518Leu
XM_011522639.1:c.4534A>C	XP_011520941.1:p.Ile1512Leu
XM_011522640.1:c.4531A>C	XP_011520942.1:p.Ile1511Leu
XM_011522641.1:c.4300A>C	XP_011520943.1:p.Ile1434Leu
NM_000548.4:c.4609A>C	NP_000539.2:p.Ile1537Leu
NM_001077183.2:c.4408A>C	NP_001070651.1:p.Ile1470Leu
NM_001114382.2:c.4540A>C	NP_001107854.1:p.Ile1514Leu
NM_001318827.1:c.4300A>C	NP_001305756.1:p.Ile1434Leu
NM_001318829.1:c.4264A>C	NP_001305758.1:p.Ile1422Leu
NM_001318831.1:c.3877A>C	NP_001305760.1:p.Ile1293Leu
NM_001318832.1:c.4441A>C	NP_001305761.1:p.Ile1481Leu
NM_001363528.1:c.4411A>C	NP_001350457.1:p.Ile1471Leu
NM_021055.2:c.4480A>C	NP_066399.2:p.Ile1494Leu
XM_005255531.4:c.4411A>C	XP_005255588.2:p.Ile1471Leu
XM_011522636.2:c.4663A>C	XP_011520938.1:p.Ile1555Leu
XM_011522637.2:c.4660A>C	XP_011520939.1:p.Ile1554Leu
XM_011522638.2:c.4825A>C	XP_011520940.2:p.Ile1609Leu
XM_011522639.2:c.4534A>C	XP_011520941.1:p.Ile1512Leu
XM_011522640.2:c.4531A>C	XP_011520942.1:p.Ile1511Leu
XM_017023615.1:c.4606A>C	XP_016879104.1:p.Ile1536Leu
XM_017023616.1:c.4477A>C	XP_016879105.1:p.Ile1493Leu
XM_017023617.1:c.4573A>C	XP_016879106.1:p.Ile1525Leu
XM_017023618.1:c.3319A>C	XP_016879107.1:p.Ile1107Leu
XM_024450413.1:c.4408A>C	XP_024306181.1:p.Ile1470Leu
NM_000548.5:c.4609A>C MANE Select	NP_000539.2:p.Ile1537Leu
NM_001370404.1:c.4477A>C	NP_001357333.1:p.Ile1493Leu
NM_001370405.1:c.4480A>C	NP_001357334.1:p.Ile1494Leu
NM_001077183.3:c.4408A>C	NP_001070651.1:p.Ile1470Leu
NM_001114382.3:c.4540A>C	NP_001107854.1:p.Ile1514Leu
NM_001318827.2:c.4300A>C	NP_001305756.1:p.Ile1434Leu
NM_001318829.2:c.4264A>C	NP_001305758.1:p.Ile1422Leu
NM_001318831.2:c.3877A>C	NP_001305760.1:p.Ile1293Leu
NM_001318832.2:c.4441A>C	NP_001305761.1:p.Ile1481Leu
NM_001363528.2:c.4411A>C	NP_001350457.1:p.Ile1471Leu
NM_021055.3:c.4480A>C	NP_066399.2:p.Ile1494Leu