Canonical Allele Identifier: CA394304306

Gene: TSC2

Linked Data

• ClinVar Variation Id: 468103
• ClinVar RCV Id: RCV000542407
• dbSNP Id: rs1441428144
• MyVariant Identifiers: chr16:g.2135232C>G (hg19) ; chr16:g.2085231C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085231C>G , CM000678.2:g.2085231C>G	GRCh38
NC_000016.9:g.2135232C>G , CM000678.1:g.2135232C>G	GRCh37
NC_000016.8:g.2075233C>G	NCBI36
NG_005895.1:g.40926C>G , LRG_487:g.40926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2920C>G	ENSP00000455997.2:n.*2920C>G
ENST00000642206.2:c.4418C>G	ENSP00000495146.2:p.Ser1473Ter
ENST00000642365.2:c.4568C>G	ENSP00000495459.2:p.Ser1523Ter
ENST00000644417.2:c.*4951C>G	ENSP00000493912.2:n.*4951C>G
ENST00000646464.2:c.*7320C>G	ENSP00000496610.2:n.*7320C>G
ENST00000219476.9:c.4571C>G MANE Select	ENSP00000219476.3:p.Ser1524Ter
ENST00000350773.9:c.4502C>G	ENSP00000344383.4:p.Ser1501Ter
ENST00000401874.7:c.4370C>G	ENSP00000384468.2:p.Ser1457Ter
ENST00000568454.6:c.4403C>G	ENSP00000454487.1:p.Ser1468Ter
ENST00000569110.2:c.794C>G
ENST00000569930.2:n.2453C>G
ENST00000642365.1:c.3225C>G
ENST00000642561.1:c.4442C>G	ENSP00000495099.1:p.Ser1481Ter
ENST00000642728.1:n.753C>G
ENST00000642791.1:n.168C>G
ENST00000642797.1:c.4373C>G	ENSP00000493846.1:p.Ser1458Ter
ENST00000642936.1:c.4439C>G	ENSP00000494514.1:p.Ser1480Ter
ENST00000643088.1:c.4369-5C>G	ENSP00000494747.1:n.4369-5C>G
ENST00000643177.1:n.585C>G
ENST00000643426.1:n.2219C>G
ENST00000643946.1:c.4501-5C>G	ENSP00000495927.1:n.4501-5C>G
ENST00000644043.1:c.4442C>G	ENSP00000496262.1:p.Ser1481Ter
ENST00000644278.1:n.53C>G
ENST00000644329.1:c.4370C>G	ENSP00000496611.1:p.Ser1457Ter
ENST00000644335.1:c.4372-5C>G	ENSP00000496317.1:n.4372-5C>G
ENST00000644399.1:c.4492C>G
ENST00000645024.1:n.2655C>G
ENST00000646388.1:c.4570-5C>G	ENSP00000495921.1:n.4570-5C>G
ENST00000646634.1:n.3386C>G
ENST00000646674.1:n.1823C>G
ENST00000647042.1:n.1794C>G
ENST00000647180.1:n.1684C>G
ENST00000219476.7:c.4571C>G	ENSP00000219476.3:p.Ser1524Ter
ENST00000350773.8:c.4502C>G	ENSP00000344383.4:p.Ser1501Ter
ENST00000382538.10:c.4226C>G	ENSP00000371978.6:p.Ser1409Ter
ENST00000401874.6:c.4370C>G	ENSP00000384468.2:p.Ser1457Ter
ENST00000439117.6:c.*3738C>G	ENSP00000406980.2:n.*3738C>G
ENST00000439673.6:c.4262C>G	ENSP00000399232.2:p.Ser1421Ter
ENST00000497886.5:n.2329C>G
ENST00000568454.5:c.4403C>G	ENSP00000454487.1:p.Ser1468Ter
ENST00000569110.1:c.753C>G
ENST00000569930.1:n.1686C>G
NM_000548.3:c.4571C>G , LRG_487t1:c.4571C>G	NP_000539.2:p.Ser1524Ter
NM_001077183.1:c.4370C>G	NP_001070651.1:p.Ser1457Ter
NM_001114382.1:c.4502C>G	NP_001107854.1:p.Ser1501Ter
XM_005255529.3:c.4442C>G	XP_005255586.2:p.Ser1481Ter
XM_005255531.3:c.4373C>G	XP_005255588.2:p.Ser1458Ter
XM_011522636.1:c.4625C>G	XP_011520938.1:p.Ser1542Ter
XM_011522637.1:c.4622C>G	XP_011520939.1:p.Ser1541Ter
XM_011522638.1:c.4514C>G	XP_011520940.1:p.Ser1505Ter
XM_011522639.1:c.4496C>G	XP_011520941.1:p.Ser1499Ter
XM_011522640.1:c.4493C>G	XP_011520942.1:p.Ser1498Ter
XM_011522641.1:c.4262C>G	XP_011520943.1:p.Ser1421Ter
NM_000548.4:c.4571C>G	NP_000539.2:p.Ser1524Ter
NM_001077183.2:c.4370C>G	NP_001070651.1:p.Ser1457Ter
NM_001114382.2:c.4502C>G	NP_001107854.1:p.Ser1501Ter
NM_001318827.1:c.4262C>G	NP_001305756.1:p.Ser1421Ter
NM_001318829.1:c.4226C>G	NP_001305758.1:p.Ser1409Ter
NM_001318831.1:c.3839C>G	NP_001305760.1:p.Ser1280Ter
NM_001318832.1:c.4403C>G	NP_001305761.1:p.Ser1468Ter
NM_001363528.1:c.4373C>G	NP_001350457.1:p.Ser1458Ter
NM_021055.2:c.4442C>G	NP_066399.2:p.Ser1481Ter
XM_005255531.4:c.4373C>G	XP_005255588.2:p.Ser1458Ter
XM_011522636.2:c.4625C>G	XP_011520938.1:p.Ser1542Ter
XM_011522637.2:c.4622C>G	XP_011520939.1:p.Ser1541Ter
XM_011522638.2:c.4787C>G	XP_011520940.2:p.Ser1596Ter
XM_011522639.2:c.4496C>G	XP_011520941.1:p.Ser1499Ter
XM_011522640.2:c.4493C>G	XP_011520942.1:p.Ser1498Ter
XM_017023615.1:c.4568C>G	XP_016879104.1:p.Ser1523Ter
XM_017023616.1:c.4439C>G	XP_016879105.1:p.Ser1480Ter
XM_017023617.1:c.4535C>G	XP_016879106.1:p.Ser1512Ter
XM_017023618.1:c.3281C>G	XP_016879107.1:p.Ser1094Ter
XM_024450413.1:c.4370C>G	XP_024306181.1:p.Ser1457Ter
NM_000548.5:c.4571C>G MANE Select	NP_000539.2:p.Ser1524Ter
NM_001370404.1:c.4439C>G	NP_001357333.1:p.Ser1480Ter
NM_001370405.1:c.4442C>G	NP_001357334.1:p.Ser1481Ter
NM_001077183.3:c.4370C>G	NP_001070651.1:p.Ser1457Ter
NM_001114382.3:c.4502C>G	NP_001107854.1:p.Ser1501Ter
NM_001318827.2:c.4262C>G	NP_001305756.1:p.Ser1421Ter
NM_001318829.2:c.4226C>G	NP_001305758.1:p.Ser1409Ter
NM_001318831.2:c.3839C>G	NP_001305760.1:p.Ser1280Ter
NM_001318832.2:c.4403C>G	NP_001305761.1:p.Ser1468Ter
NM_001363528.2:c.4373C>G	NP_001350457.1:p.Ser1458Ter
NM_021055.3:c.4442C>G	NP_066399.2:p.Ser1481Ter