Canonical Allele Identifier: CA051552

Gene: TSC2

Linked Data

• dbSNP Id: rs750305092
• ExAC: 16:2134998 T / A
• MyVariant Identifiers: chr16:g.2134998T>A (hg19) ; chr16:g.2084997T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084997T>A , CM000678.2:g.2084997T>A	GRCh38
NC_000016.9:g.2134998T>A , CM000678.1:g.2134998T>A	GRCh37
NC_000016.8:g.2074999T>A	NCBI36
NG_005895.1:g.40692T>A , LRG_487:g.40692T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2889T>A	ENSP00000455997.2:n.*2889T>A
ENST00000642206.2:c.4387T>A	ENSP00000495146.2:p.Ser1463Thr
ENST00000642365.2:c.4537T>A	ENSP00000495459.2:p.Ser1513Thr
ENST00000644417.2:c.*4920T>A	ENSP00000493912.2:n.*4920T>A
ENST00000646464.2:c.*7289T>A	ENSP00000496610.2:n.*7289T>A
ENST00000219476.9:c.4540T>A MANE Select	ENSP00000219476.3:p.Ser1514Thr
ENST00000350773.9:c.4471T>A	ENSP00000344383.4:p.Ser1491Thr
ENST00000401874.7:c.4339T>A	ENSP00000384468.2:p.Ser1447Thr
ENST00000568454.6:c.4372T>A	ENSP00000454487.1:p.Ser1458Thr
ENST00000569110.2:c.763T>A
ENST00000569930.2:n.2422T>A
ENST00000642365.1:c.3194T>A
ENST00000642561.1:c.4411T>A	ENSP00000495099.1:p.Ser1471Thr
ENST00000642728.1:n.722T>A
ENST00000642797.1:c.4342T>A	ENSP00000493846.1:p.Ser1448Thr
ENST00000642936.1:c.4408T>A	ENSP00000494514.1:p.Ser1470Thr
ENST00000643088.1:c.4339T>A	ENSP00000494747.1:p.Ser1447Thr
ENST00000643177.1:n.554T>A
ENST00000643426.1:n.2188T>A
ENST00000643946.1:c.4471T>A	ENSP00000495927.1:p.Ser1491Thr
ENST00000644043.1:c.4411T>A	ENSP00000496262.1:p.Ser1471Thr
ENST00000644329.1:c.4339T>A	ENSP00000496611.1:p.Ser1447Thr
ENST00000644335.1:c.4342T>A	ENSP00000496317.1:p.Ser1448Thr
ENST00000644399.1:c.4461T>A
ENST00000645024.1:n.2624T>A
ENST00000646388.1:c.4540T>A	ENSP00000495921.1:p.Ser1514Thr
ENST00000646634.1:n.3355T>A
ENST00000646674.1:n.1792T>A
ENST00000647042.1:n.1763T>A
ENST00000647180.1:n.1653T>A
ENST00000219476.7:c.4540T>A	ENSP00000219476.3:p.Ser1514Thr
ENST00000350773.8:c.4471T>A	ENSP00000344383.4:p.Ser1491Thr
ENST00000382538.10:c.4195T>A	ENSP00000371978.6:p.Ser1399Thr
ENST00000401874.6:c.4339T>A	ENSP00000384468.2:p.Ser1447Thr
ENST00000439117.6:c.*3707T>A	ENSP00000406980.2:n.*3707T>A
ENST00000439673.6:c.4231T>A	ENSP00000399232.2:p.Ser1411Thr
ENST00000497886.5:n.2298T>A
ENST00000568454.5:c.4372T>A	ENSP00000454487.1:p.Ser1458Thr
ENST00000569110.1:c.722T>A
ENST00000569930.1:n.1655T>A
NM_000548.3:c.4540T>A , LRG_487t1:c.4540T>A	NP_000539.2:p.Ser1514Thr
NM_001077183.1:c.4339T>A	NP_001070651.1:p.Ser1447Thr
NM_001114382.1:c.4471T>A	NP_001107854.1:p.Ser1491Thr
XM_005255529.3:c.4411T>A	XP_005255586.2:p.Ser1471Thr
XM_005255531.3:c.4342T>A	XP_005255588.2:p.Ser1448Thr
XM_011522636.1:c.4594T>A	XP_011520938.1:p.Ser1532Thr
XM_011522637.1:c.4591T>A	XP_011520939.1:p.Ser1531Thr
XM_011522638.1:c.4483T>A	XP_011520940.1:p.Ser1495Thr
XM_011522639.1:c.4465T>A	XP_011520941.1:p.Ser1489Thr
XM_011522640.1:c.4462T>A	XP_011520942.1:p.Ser1488Thr
XM_011522641.1:c.4231T>A	XP_011520943.1:p.Ser1411Thr
NM_000548.4:c.4540T>A	NP_000539.2:p.Ser1514Thr
NM_001077183.2:c.4339T>A	NP_001070651.1:p.Ser1447Thr
NM_001114382.2:c.4471T>A	NP_001107854.1:p.Ser1491Thr
NM_001318827.1:c.4231T>A	NP_001305756.1:p.Ser1411Thr
NM_001318829.1:c.4195T>A	NP_001305758.1:p.Ser1399Thr
NM_001318831.1:c.3808T>A	NP_001305760.1:p.Ser1270Thr
NM_001318832.1:c.4372T>A	NP_001305761.1:p.Ser1458Thr
NM_001363528.1:c.4342T>A	NP_001350457.1:p.Ser1448Thr
NM_021055.2:c.4411T>A	NP_066399.2:p.Ser1471Thr
XM_005255531.4:c.4342T>A	XP_005255588.2:p.Ser1448Thr
XM_011522636.2:c.4594T>A	XP_011520938.1:p.Ser1532Thr
XM_011522637.2:c.4591T>A	XP_011520939.1:p.Ser1531Thr
XM_011522638.2:c.4756T>A	XP_011520940.2:p.Ser1586Thr
XM_011522639.2:c.4465T>A	XP_011520941.1:p.Ser1489Thr
XM_011522640.2:c.4462T>A	XP_011520942.1:p.Ser1488Thr
XM_017023615.1:c.4537T>A	XP_016879104.1:p.Ser1513Thr
XM_017023616.1:c.4408T>A	XP_016879105.1:p.Ser1470Thr
XM_017023617.1:c.4504T>A	XP_016879106.1:p.Ser1502Thr
XM_017023618.1:c.3250T>A	XP_016879107.1:p.Ser1084Thr
XM_024450413.1:c.4339T>A	XP_024306181.1:p.Ser1447Thr
NM_000548.5:c.4540T>A MANE Select	NP_000539.2:p.Ser1514Thr
NM_001370404.1:c.4408T>A	NP_001357333.1:p.Ser1470Thr
NM_001370405.1:c.4411T>A	NP_001357334.1:p.Ser1471Thr
NM_001077183.3:c.4339T>A	NP_001070651.1:p.Ser1447Thr
NM_001114382.3:c.4471T>A	NP_001107854.1:p.Ser1491Thr
NM_001318827.2:c.4231T>A	NP_001305756.1:p.Ser1411Thr
NM_001318829.2:c.4195T>A	NP_001305758.1:p.Ser1399Thr
NM_001318831.2:c.3808T>A	NP_001305760.1:p.Ser1270Thr
NM_001318832.2:c.4372T>A	NP_001305761.1:p.Ser1458Thr
NM_001363528.2:c.4342T>A	NP_001350457.1:p.Ser1448Thr
NM_021055.3:c.4411T>A	NP_066399.2:p.Ser1471Thr