Canonical Allele Identifier: CA10583336

Gene: TSC2

Linked Data

• ClinVar Variation Id: 238055
• ClinVar RCV Id: RCV000233971 ; RCV003165608 ; RCV003463660 ; RCV003998830
• dbSNP Id: rs878854109
• gnomAD v4: 16-2085293-A-G
• MyVariant Identifiers: chr16:g.2135294A>G (hg19) ; chr16:g.2085293A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085293A>G , CM000678.2:g.2085293A>G	GRCh38
NC_000016.9:g.2135294A>G , CM000678.1:g.2135294A>G	GRCh37
NC_000016.8:g.2075295A>G	NCBI36
NG_005895.1:g.40988A>G , LRG_487:g.40988A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2982A>G	ENSP00000455997.2:n.*2982A>G
ENST00000642206.2:c.4480A>G	ENSP00000495146.2:p.Ile1494Val
ENST00000642365.2:c.4630A>G	ENSP00000495459.2:p.Ile1544Val
ENST00000644417.2:c.*5013A>G	ENSP00000493912.2:n.*5013A>G
ENST00000646464.2:c.*7382A>G	ENSP00000496610.2:n.*7382A>G
ENST00000219476.9:c.4633A>G MANE Select	ENSP00000219476.3:p.Ile1545Val
ENST00000350773.9:c.4564A>G	ENSP00000344383.4:p.Ile1522Val
ENST00000401874.7:c.4432A>G	ENSP00000384468.2:p.Ile1478Val
ENST00000568454.6:c.4465A>G	ENSP00000454487.1:p.Ile1489Val
ENST00000569110.2:c.856A>G
ENST00000569930.2:n.2515A>G
ENST00000642365.1:c.3287A>G
ENST00000642561.1:c.4504A>G	ENSP00000495099.1:p.Ile1502Val
ENST00000642728.1:n.815A>G
ENST00000642791.1:n.230A>G
ENST00000642797.1:c.4435A>G	ENSP00000493846.1:p.Ile1479Val
ENST00000642936.1:c.4501A>G	ENSP00000494514.1:p.Ile1501Val
ENST00000643088.1:c.4426A>G	ENSP00000494747.1:p.Ile1476Val
ENST00000643177.1:n.647A>G
ENST00000643426.1:n.2281A>G
ENST00000643946.1:c.4558A>G	ENSP00000495927.1:p.Ile1520Val
ENST00000644043.1:c.4504A>G	ENSP00000496262.1:p.Ile1502Val
ENST00000644278.1:n.115A>G
ENST00000644329.1:c.4432A>G	ENSP00000496611.1:p.Ile1478Val
ENST00000644335.1:c.4429A>G	ENSP00000496317.1:p.Ile1477Val
ENST00000644399.1:c.4554A>G
ENST00000645024.1:n.2717A>G
ENST00000646388.1:c.4627A>G	ENSP00000495921.1:p.Ile1543Val
ENST00000646634.1:n.3448A>G
ENST00000646674.1:n.1885A>G
ENST00000647042.1:n.1856A>G
ENST00000647180.1:n.1746A>G
ENST00000219476.7:c.4633A>G	ENSP00000219476.3:p.Ile1545Val
ENST00000350773.8:c.4564A>G	ENSP00000344383.4:p.Ile1522Val
ENST00000382538.10:c.4288A>G	ENSP00000371978.6:p.Ile1430Val
ENST00000401874.6:c.4432A>G	ENSP00000384468.2:p.Ile1478Val
ENST00000439117.6:c.*3800A>G	ENSP00000406980.2:n.*3800A>G
ENST00000439673.6:c.4324A>G	ENSP00000399232.2:p.Ile1442Val
ENST00000497886.5:n.2391A>G
ENST00000568454.5:c.4465A>G	ENSP00000454487.1:p.Ile1489Val
ENST00000569110.1:c.815A>G
ENST00000569930.1:n.1748A>G
NM_000548.3:c.4633A>G , LRG_487t1:c.4633A>G	NP_000539.2:p.Ile1545Val
NM_001077183.1:c.4432A>G	NP_001070651.1:p.Ile1478Val
NM_001114382.1:c.4564A>G	NP_001107854.1:p.Ile1522Val
XM_005255529.3:c.4504A>G	XP_005255586.2:p.Ile1502Val
XM_005255531.3:c.4435A>G	XP_005255588.2:p.Ile1479Val
XM_011522636.1:c.4687A>G	XP_011520938.1:p.Ile1563Val
XM_011522637.1:c.4684A>G	XP_011520939.1:p.Ile1562Val
XM_011522638.1:c.4576A>G	XP_011520940.1:p.Ile1526Val
XM_011522639.1:c.4558A>G	XP_011520941.1:p.Ile1520Val
XM_011522640.1:c.4555A>G	XP_011520942.1:p.Ile1519Val
XM_011522641.1:c.4324A>G	XP_011520943.1:p.Ile1442Val
NM_000548.4:c.4633A>G	NP_000539.2:p.Ile1545Val
NM_001077183.2:c.4432A>G	NP_001070651.1:p.Ile1478Val
NM_001114382.2:c.4564A>G	NP_001107854.1:p.Ile1522Val
NM_001318827.1:c.4324A>G	NP_001305756.1:p.Ile1442Val
NM_001318829.1:c.4288A>G	NP_001305758.1:p.Ile1430Val
NM_001318831.1:c.3901A>G	NP_001305760.1:p.Ile1301Val
NM_001318832.1:c.4465A>G	NP_001305761.1:p.Ile1489Val
NM_001363528.1:c.4435A>G	NP_001350457.1:p.Ile1479Val
NM_021055.2:c.4504A>G	NP_066399.2:p.Ile1502Val
XM_005255531.4:c.4435A>G	XP_005255588.2:p.Ile1479Val
XM_011522636.2:c.4687A>G	XP_011520938.1:p.Ile1563Val
XM_011522637.2:c.4684A>G	XP_011520939.1:p.Ile1562Val
XM_011522638.2:c.4849A>G	XP_011520940.2:p.Ile1617Val
XM_011522639.2:c.4558A>G	XP_011520941.1:p.Ile1520Val
XM_011522640.2:c.4555A>G	XP_011520942.1:p.Ile1519Val
XM_017023615.1:c.4630A>G	XP_016879104.1:p.Ile1544Val
XM_017023616.1:c.4501A>G	XP_016879105.1:p.Ile1501Val
XM_017023617.1:c.4597A>G	XP_016879106.1:p.Ile1533Val
XM_017023618.1:c.3343A>G	XP_016879107.1:p.Ile1115Val
XM_024450413.1:c.4432A>G	XP_024306181.1:p.Ile1478Val
NM_000548.5:c.4633A>G MANE Select	NP_000539.2:p.Ile1545Val
NM_001370404.1:c.4501A>G	NP_001357333.1:p.Ile1501Val
NM_001370405.1:c.4504A>G	NP_001357334.1:p.Ile1502Val
NM_001077183.3:c.4432A>G	NP_001070651.1:p.Ile1478Val
NM_001114382.3:c.4564A>G	NP_001107854.1:p.Ile1522Val
NM_001318827.2:c.4324A>G	NP_001305756.1:p.Ile1442Val
NM_001318829.2:c.4288A>G	NP_001305758.1:p.Ile1430Val
NM_001318831.2:c.3901A>G	NP_001305760.1:p.Ile1301Val
NM_001318832.2:c.4465A>G	NP_001305761.1:p.Ile1489Val
NM_001363528.2:c.4435A>G	NP_001350457.1:p.Ile1479Val
NM_021055.3:c.4504A>G	NP_066399.2:p.Ile1502Val