Canonical Allele Identifier: CA020763

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49475
• ClinVar RCV Id: RCV000042735
• dbSNP Id: rs45495796
• MyVariant Identifiers: chr16:g.2135267C>T (hg19) ; chr16:g.2085266C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085266C>T , CM000678.2:g.2085266C>T	GRCh38
NC_000016.9:g.2135267C>T , CM000678.1:g.2135267C>T	GRCh37
NC_000016.8:g.2075268C>T	NCBI36
NG_005895.1:g.40961C>T , LRG_487:g.40961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2955C>T	ENSP00000455997.2:n.*2955C>T
ENST00000642206.2:c.4453C>T	ENSP00000495146.2:p.Gln1485Ter
ENST00000642365.2:c.4603C>T	ENSP00000495459.2:p.Gln1535Ter
ENST00000644417.2:c.*4986C>T	ENSP00000493912.2:n.*4986C>T
ENST00000646464.2:c.*7355C>T	ENSP00000496610.2:n.*7355C>T
ENST00000219476.9:c.4606C>T MANE Select	ENSP00000219476.3:p.Gln1536Ter
ENST00000350773.9:c.4537C>T	ENSP00000344383.4:p.Gln1513Ter
ENST00000401874.7:c.4405C>T	ENSP00000384468.2:p.Gln1469Ter
ENST00000568454.6:c.4438C>T	ENSP00000454487.1:p.Gln1480Ter
ENST00000569110.2:c.829C>T
ENST00000569930.2:n.2488C>T
ENST00000642365.1:c.3260C>T
ENST00000642561.1:c.4477C>T	ENSP00000495099.1:p.Gln1493Ter
ENST00000642728.1:n.788C>T
ENST00000642791.1:n.203C>T
ENST00000642797.1:c.4408C>T	ENSP00000493846.1:p.Gln1470Ter
ENST00000642936.1:c.4474C>T	ENSP00000494514.1:p.Gln1492Ter
ENST00000643088.1:c.4399C>T	ENSP00000494747.1:p.Gln1467Ter
ENST00000643177.1:n.620C>T
ENST00000643426.1:n.2254C>T
ENST00000643946.1:c.4531C>T	ENSP00000495927.1:p.Gln1511Ter
ENST00000644043.1:c.4477C>T	ENSP00000496262.1:p.Gln1493Ter
ENST00000644278.1:n.88C>T
ENST00000644329.1:c.4405C>T	ENSP00000496611.1:p.Gln1469Ter
ENST00000644335.1:c.4402C>T	ENSP00000496317.1:p.Gln1468Ter
ENST00000644399.1:c.4527C>T
ENST00000645024.1:n.2690C>T
ENST00000646388.1:c.4600C>T	ENSP00000495921.1:p.Gln1534Ter
ENST00000646634.1:n.3421C>T
ENST00000646674.1:n.1858C>T
ENST00000647042.1:n.1829C>T
ENST00000647180.1:n.1719C>T
ENST00000219476.7:c.4606C>T	ENSP00000219476.3:p.Gln1536Ter
ENST00000350773.8:c.4537C>T	ENSP00000344383.4:p.Gln1513Ter
ENST00000382538.10:c.4261C>T	ENSP00000371978.6:p.Gln1421Ter
ENST00000401874.6:c.4405C>T	ENSP00000384468.2:p.Gln1469Ter
ENST00000439117.6:c.*3773C>T	ENSP00000406980.2:n.*3773C>T
ENST00000439673.6:c.4297C>T	ENSP00000399232.2:p.Gln1433Ter
ENST00000497886.5:n.2364C>T
ENST00000568454.5:c.4438C>T	ENSP00000454487.1:p.Gln1480Ter
ENST00000569110.1:c.788C>T
ENST00000569930.1:n.1721C>T
NM_000548.3:c.4606C>T , LRG_487t1:c.4606C>T	NP_000539.2:p.Gln1536Ter
NM_001077183.1:c.4405C>T	NP_001070651.1:p.Gln1469Ter
NM_001114382.1:c.4537C>T	NP_001107854.1:p.Gln1513Ter
XM_005255529.3:c.4477C>T	XP_005255586.2:p.Gln1493Ter
XM_005255531.3:c.4408C>T	XP_005255588.2:p.Gln1470Ter
XM_011522636.1:c.4660C>T	XP_011520938.1:p.Gln1554Ter
XM_011522637.1:c.4657C>T	XP_011520939.1:p.Gln1553Ter
XM_011522638.1:c.4549C>T	XP_011520940.1:p.Gln1517Ter
XM_011522639.1:c.4531C>T	XP_011520941.1:p.Gln1511Ter
XM_011522640.1:c.4528C>T	XP_011520942.1:p.Gln1510Ter
XM_011522641.1:c.4297C>T	XP_011520943.1:p.Gln1433Ter
NM_000548.4:c.4606C>T	NP_000539.2:p.Gln1536Ter
NM_001077183.2:c.4405C>T	NP_001070651.1:p.Gln1469Ter
NM_001114382.2:c.4537C>T	NP_001107854.1:p.Gln1513Ter
NM_001318827.1:c.4297C>T	NP_001305756.1:p.Gln1433Ter
NM_001318829.1:c.4261C>T	NP_001305758.1:p.Gln1421Ter
NM_001318831.1:c.3874C>T	NP_001305760.1:p.Gln1292Ter
NM_001318832.1:c.4438C>T	NP_001305761.1:p.Gln1480Ter
NM_001363528.1:c.4408C>T	NP_001350457.1:p.Gln1470Ter
NM_021055.2:c.4477C>T	NP_066399.2:p.Gln1493Ter
XM_005255531.4:c.4408C>T	XP_005255588.2:p.Gln1470Ter
XM_011522636.2:c.4660C>T	XP_011520938.1:p.Gln1554Ter
XM_011522637.2:c.4657C>T	XP_011520939.1:p.Gln1553Ter
XM_011522638.2:c.4822C>T	XP_011520940.2:p.Gln1608Ter
XM_011522639.2:c.4531C>T	XP_011520941.1:p.Gln1511Ter
XM_011522640.2:c.4528C>T	XP_011520942.1:p.Gln1510Ter
XM_017023615.1:c.4603C>T	XP_016879104.1:p.Gln1535Ter
XM_017023616.1:c.4474C>T	XP_016879105.1:p.Gln1492Ter
XM_017023617.1:c.4570C>T	XP_016879106.1:p.Gln1524Ter
XM_017023618.1:c.3316C>T	XP_016879107.1:p.Gln1106Ter
XM_024450413.1:c.4405C>T	XP_024306181.1:p.Gln1469Ter
NM_000548.5:c.4606C>T MANE Select	NP_000539.2:p.Gln1536Ter
NM_001370404.1:c.4474C>T	NP_001357333.1:p.Gln1492Ter
NM_001370405.1:c.4477C>T	NP_001357334.1:p.Gln1493Ter
NM_001077183.3:c.4405C>T	NP_001070651.1:p.Gln1469Ter
NM_001114382.3:c.4537C>T	NP_001107854.1:p.Gln1513Ter
NM_001318827.2:c.4297C>T	NP_001305756.1:p.Gln1433Ter
NM_001318829.2:c.4261C>T	NP_001305758.1:p.Gln1421Ter
NM_001318831.2:c.3874C>T	NP_001305760.1:p.Gln1292Ter
NM_001318832.2:c.4438C>T	NP_001305761.1:p.Gln1480Ter
NM_001363528.2:c.4408C>T	NP_001350457.1:p.Gln1470Ter
NM_021055.3:c.4477C>T	NP_066399.2:p.Gln1493Ter