Canonical Allele Identifier: CA394304754

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135277C>G (hg19) ; chr16:g.2085276C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085276C>G , CM000678.2:g.2085276C>G	GRCh38
NC_000016.9:g.2135277C>G , CM000678.1:g.2135277C>G	GRCh37
NC_000016.8:g.2075278C>G	NCBI36
NG_005895.1:g.40971C>G , LRG_487:g.40971C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2965C>G	ENSP00000455997.2:n.*2965C>G
ENST00000642206.2:c.4463C>G	ENSP00000495146.2:p.Ser1488Ter
ENST00000642365.2:c.4613C>G	ENSP00000495459.2:p.Ser1538Ter
ENST00000644417.2:c.*4996C>G	ENSP00000493912.2:n.*4996C>G
ENST00000646464.2:c.*7365C>G	ENSP00000496610.2:n.*7365C>G
ENST00000219476.9:c.4616C>G MANE Select	ENSP00000219476.3:p.Ser1539Ter
ENST00000350773.9:c.4547C>G	ENSP00000344383.4:p.Ser1516Ter
ENST00000401874.7:c.4415C>G	ENSP00000384468.2:p.Ser1472Ter
ENST00000568454.6:c.4448C>G	ENSP00000454487.1:p.Ser1483Ter
ENST00000569110.2:c.839C>G
ENST00000569930.2:n.2498C>G
ENST00000642365.1:c.3270C>G
ENST00000642561.1:c.4487C>G	ENSP00000495099.1:p.Ser1496Ter
ENST00000642728.1:n.798C>G
ENST00000642791.1:n.213C>G
ENST00000642797.1:c.4418C>G	ENSP00000493846.1:p.Ser1473Ter
ENST00000642936.1:c.4484C>G	ENSP00000494514.1:p.Ser1495Ter
ENST00000643088.1:c.4409C>G	ENSP00000494747.1:p.Ser1470Ter
ENST00000643177.1:n.630C>G
ENST00000643426.1:n.2264C>G
ENST00000643946.1:c.4541C>G	ENSP00000495927.1:p.Ser1514Ter
ENST00000644043.1:c.4487C>G	ENSP00000496262.1:p.Ser1496Ter
ENST00000644278.1:n.98C>G
ENST00000644329.1:c.4415C>G	ENSP00000496611.1:p.Ser1472Ter
ENST00000644335.1:c.4412C>G	ENSP00000496317.1:p.Ser1471Ter
ENST00000644399.1:c.4537C>G
ENST00000645024.1:n.2700C>G
ENST00000646388.1:c.4610C>G	ENSP00000495921.1:p.Ser1537Ter
ENST00000646634.1:n.3431C>G
ENST00000646674.1:n.1868C>G
ENST00000647042.1:n.1839C>G
ENST00000647180.1:n.1729C>G
ENST00000219476.7:c.4616C>G	ENSP00000219476.3:p.Ser1539Ter
ENST00000350773.8:c.4547C>G	ENSP00000344383.4:p.Ser1516Ter
ENST00000382538.10:c.4271C>G	ENSP00000371978.6:p.Ser1424Ter
ENST00000401874.6:c.4415C>G	ENSP00000384468.2:p.Ser1472Ter
ENST00000439117.6:c.*3783C>G	ENSP00000406980.2:n.*3783C>G
ENST00000439673.6:c.4307C>G	ENSP00000399232.2:p.Ser1436Ter
ENST00000497886.5:n.2374C>G
ENST00000568454.5:c.4448C>G	ENSP00000454487.1:p.Ser1483Ter
ENST00000569110.1:c.798C>G
ENST00000569930.1:n.1731C>G
NM_000548.3:c.4616C>G , LRG_487t1:c.4616C>G	NP_000539.2:p.Ser1539Ter
NM_001077183.1:c.4415C>G	NP_001070651.1:p.Ser1472Ter
NM_001114382.1:c.4547C>G	NP_001107854.1:p.Ser1516Ter
XM_005255529.3:c.4487C>G	XP_005255586.2:p.Ser1496Ter
XM_005255531.3:c.4418C>G	XP_005255588.2:p.Ser1473Ter
XM_011522636.1:c.4670C>G	XP_011520938.1:p.Ser1557Ter
XM_011522637.1:c.4667C>G	XP_011520939.1:p.Ser1556Ter
XM_011522638.1:c.4559C>G	XP_011520940.1:p.Ser1520Ter
XM_011522639.1:c.4541C>G	XP_011520941.1:p.Ser1514Ter
XM_011522640.1:c.4538C>G	XP_011520942.1:p.Ser1513Ter
XM_011522641.1:c.4307C>G	XP_011520943.1:p.Ser1436Ter
NM_000548.4:c.4616C>G	NP_000539.2:p.Ser1539Ter
NM_001077183.2:c.4415C>G	NP_001070651.1:p.Ser1472Ter
NM_001114382.2:c.4547C>G	NP_001107854.1:p.Ser1516Ter
NM_001318827.1:c.4307C>G	NP_001305756.1:p.Ser1436Ter
NM_001318829.1:c.4271C>G	NP_001305758.1:p.Ser1424Ter
NM_001318831.1:c.3884C>G	NP_001305760.1:p.Ser1295Ter
NM_001318832.1:c.4448C>G	NP_001305761.1:p.Ser1483Ter
NM_001363528.1:c.4418C>G	NP_001350457.1:p.Ser1473Ter
NM_021055.2:c.4487C>G	NP_066399.2:p.Ser1496Ter
XM_005255531.4:c.4418C>G	XP_005255588.2:p.Ser1473Ter
XM_011522636.2:c.4670C>G	XP_011520938.1:p.Ser1557Ter
XM_011522637.2:c.4667C>G	XP_011520939.1:p.Ser1556Ter
XM_011522638.2:c.4832C>G	XP_011520940.2:p.Ser1611Ter
XM_011522639.2:c.4541C>G	XP_011520941.1:p.Ser1514Ter
XM_011522640.2:c.4538C>G	XP_011520942.1:p.Ser1513Ter
XM_017023615.1:c.4613C>G	XP_016879104.1:p.Ser1538Ter
XM_017023616.1:c.4484C>G	XP_016879105.1:p.Ser1495Ter
XM_017023617.1:c.4580C>G	XP_016879106.1:p.Ser1527Ter
XM_017023618.1:c.3326C>G	XP_016879107.1:p.Ser1109Ter
XM_024450413.1:c.4415C>G	XP_024306181.1:p.Ser1472Ter
NM_000548.5:c.4616C>G MANE Select	NP_000539.2:p.Ser1539Ter
NM_001370404.1:c.4484C>G	NP_001357333.1:p.Ser1495Ter
NM_001370405.1:c.4487C>G	NP_001357334.1:p.Ser1496Ter
NM_001077183.3:c.4415C>G	NP_001070651.1:p.Ser1472Ter
NM_001114382.3:c.4547C>G	NP_001107854.1:p.Ser1516Ter
NM_001318827.2:c.4307C>G	NP_001305756.1:p.Ser1436Ter
NM_001318829.2:c.4271C>G	NP_001305758.1:p.Ser1424Ter
NM_001318831.2:c.3884C>G	NP_001305760.1:p.Ser1295Ter
NM_001318832.2:c.4448C>G	NP_001305761.1:p.Ser1483Ter
NM_001363528.2:c.4418C>G	NP_001350457.1:p.Ser1473Ter
NM_021055.3:c.4487C>G	NP_066399.2:p.Ser1496Ter