Canonical Allele Identifier: CA10583331

Gene: TSC2

Linked Data

• ClinVar Variation Id: 238042
• ClinVar RCV Id: RCV000227467 ; RCV003165607
• dbSNP Id: rs878854103
• gnomAD v2: 16-2134293-T-A
• MyVariant Identifiers: chr16:g.2134293T>A (hg19) ; chr16:g.2084292T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084292T>A , CM000678.2:g.2084292T>A	GRCh38
NC_000016.9:g.2134293T>A , CM000678.1:g.2134293T>A	GRCh37
NC_000016.8:g.2074294T>A	NCBI36
NG_005895.1:g.39987T>A , LRG_487:g.39987T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2419T>A	ENSP00000455997.2:n.*2419T>A
ENST00000642206.2:c.3917T>A	ENSP00000495146.2:p.Ile1306Asn
ENST00000642365.2:c.4067T>A	ENSP00000495459.2:p.Ile1356Asn
ENST00000644417.2:c.*4450T>A	ENSP00000493912.2:n.*4450T>A
ENST00000646464.2:c.*6819T>A	ENSP00000496610.2:n.*6819T>A
ENST00000219476.9:c.4070T>A MANE Select	ENSP00000219476.3:p.Ile1357Asn
ENST00000350773.9:c.4001T>A	ENSP00000344383.4:p.Ile1334Asn
ENST00000401874.7:c.3869T>A	ENSP00000384468.2:p.Ile1290Asn
ENST00000568454.6:c.3902T>A	ENSP00000454487.1:p.Ile1301Asn
ENST00000569110.2:c.306T>A
ENST00000569930.2:n.1952T>A
ENST00000642365.1:c.2724T>A
ENST00000642561.1:c.3941T>A	ENSP00000495099.1:p.Ile1314Asn
ENST00000642728.1:n.252T>A
ENST00000642797.1:c.3872T>A	ENSP00000493846.1:p.Ile1291Asn
ENST00000642936.1:c.3938T>A	ENSP00000494514.1:p.Ile1313Asn
ENST00000643088.1:c.3869T>A	ENSP00000494747.1:p.Ile1290Asn
ENST00000643177.1:n.84T>A
ENST00000643426.1:n.1718T>A
ENST00000643533.1:n.511T>A
ENST00000643946.1:c.4001T>A	ENSP00000495927.1:p.Ile1334Asn
ENST00000644043.1:c.3941T>A	ENSP00000496262.1:p.Ile1314Asn
ENST00000644329.1:c.3869T>A	ENSP00000496611.1:p.Ile1290Asn
ENST00000644335.1:c.3872T>A	ENSP00000496317.1:p.Ile1291Asn
ENST00000644399.1:c.3991T>A
ENST00000645024.1:n.2154T>A
ENST00000645186.1:c.313T>A
ENST00000646388.1:c.4070T>A	ENSP00000495921.1:p.Ile1357Asn
ENST00000646634.1:n.2885T>A
ENST00000646674.1:n.1322T>A
ENST00000647042.1:n.1293T>A
ENST00000647180.1:n.1183T>A
ENST00000219476.7:c.4070T>A	ENSP00000219476.3:p.Ile1357Asn
ENST00000350773.8:c.4001T>A	ENSP00000344383.4:p.Ile1334Asn
ENST00000382538.10:c.3725T>A	ENSP00000371978.6:p.Ile1242Asn
ENST00000401874.6:c.3869T>A	ENSP00000384468.2:p.Ile1290Asn
ENST00000439117.6:c.*3237T>A	ENSP00000406980.2:n.*3237T>A
ENST00000439673.6:c.3761T>A	ENSP00000399232.2:p.Ile1254Asn
ENST00000497886.5:n.1828T>A
ENST00000568454.5:c.3902T>A	ENSP00000454487.1:p.Ile1301Asn
ENST00000569110.1:c.252T>A
ENST00000569930.1:n.1185T>A
NM_000548.3:c.4070T>A , LRG_487t1:c.4070T>A	NP_000539.2:p.Ile1357Asn
NM_001077183.1:c.3869T>A	NP_001070651.1:p.Ile1290Asn
NM_001114382.1:c.4001T>A	NP_001107854.1:p.Ile1334Asn
XM_005255529.3:c.3941T>A	XP_005255586.2:p.Ile1314Asn
XM_005255531.3:c.3872T>A	XP_005255588.2:p.Ile1291Asn
XM_011522636.1:c.4124T>A	XP_011520938.1:p.Ile1375Asn
XM_011522637.1:c.4121T>A	XP_011520939.1:p.Ile1374Asn
XM_011522638.1:c.4013T>A	XP_011520940.1:p.Ile1338Asn
XM_011522639.1:c.3995T>A	XP_011520941.1:p.Ile1332Asn
XM_011522640.1:c.3992T>A	XP_011520942.1:p.Ile1331Asn
XM_011522641.1:c.3761T>A	XP_011520943.1:p.Ile1254Asn
NM_000548.4:c.4070T>A	NP_000539.2:p.Ile1357Asn
NM_001077183.2:c.3869T>A	NP_001070651.1:p.Ile1290Asn
NM_001114382.2:c.4001T>A	NP_001107854.1:p.Ile1334Asn
NM_001318827.1:c.3761T>A	NP_001305756.1:p.Ile1254Asn
NM_001318829.1:c.3725T>A	NP_001305758.1:p.Ile1242Asn
NM_001318831.1:c.3338T>A	NP_001305760.1:p.Ile1113Asn
NM_001318832.1:c.3902T>A	NP_001305761.1:p.Ile1301Asn
NM_001363528.1:c.3872T>A	NP_001350457.1:p.Ile1291Asn
NM_021055.2:c.3941T>A	NP_066399.2:p.Ile1314Asn
XM_005255531.4:c.3872T>A	XP_005255588.2:p.Ile1291Asn
XM_011522636.2:c.4124T>A	XP_011520938.1:p.Ile1375Asn
XM_011522637.2:c.4121T>A	XP_011520939.1:p.Ile1374Asn
XM_011522638.2:c.4286T>A	XP_011520940.2:p.Ile1429Asn
XM_011522639.2:c.3995T>A	XP_011520941.1:p.Ile1332Asn
XM_011522640.2:c.3992T>A	XP_011520942.1:p.Ile1331Asn
XM_017023615.1:c.4067T>A	XP_016879104.1:p.Ile1356Asn
XM_017023616.1:c.3938T>A	XP_016879105.1:p.Ile1313Asn
XM_017023617.1:c.4034T>A	XP_016879106.1:p.Ile1345Asn
XM_017023618.1:c.2780T>A	XP_016879107.1:p.Ile927Asn
XM_024450413.1:c.3869T>A	XP_024306181.1:p.Ile1290Asn
NM_000548.5:c.4070T>A MANE Select	NP_000539.2:p.Ile1357Asn
NM_001370404.1:c.3938T>A	NP_001357333.1:p.Ile1313Asn
NM_001370405.1:c.3941T>A	NP_001357334.1:p.Ile1314Asn
NM_001077183.3:c.3869T>A	NP_001070651.1:p.Ile1290Asn
NM_001114382.3:c.4001T>A	NP_001107854.1:p.Ile1334Asn
NM_001318827.2:c.3761T>A	NP_001305756.1:p.Ile1254Asn
NM_001318829.2:c.3725T>A	NP_001305758.1:p.Ile1242Asn
NM_001318831.2:c.3338T>A	NP_001305760.1:p.Ile1113Asn
NM_001318832.2:c.3902T>A	NP_001305761.1:p.Ile1301Asn
NM_001363528.2:c.3872T>A	NP_001350457.1:p.Ile1291Asn
NM_021055.3:c.3941T>A	NP_066399.2:p.Ile1314Asn