Canonical Allele Identifier: CA394304702

Gene: TSC2

Linked Data

• dbSNP Id: rs1060500930
• MyVariant Identifiers: chr16:g.2135273C>A (hg19) ; chr16:g.2085272C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085272C>A , CM000678.2:g.2085272C>A	GRCh38
NC_000016.9:g.2135273C>A , CM000678.1:g.2135273C>A	GRCh37
NC_000016.8:g.2075274C>A	NCBI36
NG_005895.1:g.40967C>A , LRG_487:g.40967C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2961C>A	ENSP00000455997.2:n.*2961C>A
ENST00000642206.2:c.4459C>A	ENSP00000495146.2:p.Pro1487Thr
ENST00000642365.2:c.4609C>A	ENSP00000495459.2:p.Pro1537Thr
ENST00000644417.2:c.*4992C>A	ENSP00000493912.2:n.*4992C>A
ENST00000646464.2:c.*7361C>A	ENSP00000496610.2:n.*7361C>A
ENST00000219476.9:c.4612C>A MANE Select	ENSP00000219476.3:p.Pro1538Thr
ENST00000350773.9:c.4543C>A	ENSP00000344383.4:p.Pro1515Thr
ENST00000401874.7:c.4411C>A	ENSP00000384468.2:p.Pro1471Thr
ENST00000568454.6:c.4444C>A	ENSP00000454487.1:p.Pro1482Thr
ENST00000569110.2:c.835C>A
ENST00000569930.2:n.2494C>A
ENST00000642365.1:c.3266C>A
ENST00000642561.1:c.4483C>A	ENSP00000495099.1:p.Pro1495Thr
ENST00000642728.1:n.794C>A
ENST00000642791.1:n.209C>A
ENST00000642797.1:c.4414C>A	ENSP00000493846.1:p.Pro1472Thr
ENST00000642936.1:c.4480C>A	ENSP00000494514.1:p.Pro1494Thr
ENST00000643088.1:c.4405C>A	ENSP00000494747.1:p.Pro1469Thr
ENST00000643177.1:n.626C>A
ENST00000643426.1:n.2260C>A
ENST00000643946.1:c.4537C>A	ENSP00000495927.1:p.Pro1513Thr
ENST00000644043.1:c.4483C>A	ENSP00000496262.1:p.Pro1495Thr
ENST00000644278.1:n.94C>A
ENST00000644329.1:c.4411C>A	ENSP00000496611.1:p.Pro1471Thr
ENST00000644335.1:c.4408C>A	ENSP00000496317.1:p.Pro1470Thr
ENST00000644399.1:c.4533C>A
ENST00000645024.1:n.2696C>A
ENST00000646388.1:c.4606C>A	ENSP00000495921.1:p.Pro1536Thr
ENST00000646634.1:n.3427C>A
ENST00000646674.1:n.1864C>A
ENST00000647042.1:n.1835C>A
ENST00000647180.1:n.1725C>A
ENST00000219476.7:c.4612C>A	ENSP00000219476.3:p.Pro1538Thr
ENST00000350773.8:c.4543C>A	ENSP00000344383.4:p.Pro1515Thr
ENST00000382538.10:c.4267C>A	ENSP00000371978.6:p.Pro1423Thr
ENST00000401874.6:c.4411C>A	ENSP00000384468.2:p.Pro1471Thr
ENST00000439117.6:c.*3779C>A	ENSP00000406980.2:n.*3779C>A
ENST00000439673.6:c.4303C>A	ENSP00000399232.2:p.Pro1435Thr
ENST00000497886.5:n.2370C>A
ENST00000568454.5:c.4444C>A	ENSP00000454487.1:p.Pro1482Thr
ENST00000569110.1:c.794C>A
ENST00000569930.1:n.1727C>A
NM_000548.3:c.4612C>A , LRG_487t1:c.4612C>A	NP_000539.2:p.Pro1538Thr
NM_001077183.1:c.4411C>A	NP_001070651.1:p.Pro1471Thr
NM_001114382.1:c.4543C>A	NP_001107854.1:p.Pro1515Thr
XM_005255529.3:c.4483C>A	XP_005255586.2:p.Pro1495Thr
XM_005255531.3:c.4414C>A	XP_005255588.2:p.Pro1472Thr
XM_011522636.1:c.4666C>A	XP_011520938.1:p.Pro1556Thr
XM_011522637.1:c.4663C>A	XP_011520939.1:p.Pro1555Thr
XM_011522638.1:c.4555C>A	XP_011520940.1:p.Pro1519Thr
XM_011522639.1:c.4537C>A	XP_011520941.1:p.Pro1513Thr
XM_011522640.1:c.4534C>A	XP_011520942.1:p.Pro1512Thr
XM_011522641.1:c.4303C>A	XP_011520943.1:p.Pro1435Thr
NM_000548.4:c.4612C>A	NP_000539.2:p.Pro1538Thr
NM_001077183.2:c.4411C>A	NP_001070651.1:p.Pro1471Thr
NM_001114382.2:c.4543C>A	NP_001107854.1:p.Pro1515Thr
NM_001318827.1:c.4303C>A	NP_001305756.1:p.Pro1435Thr
NM_001318829.1:c.4267C>A	NP_001305758.1:p.Pro1423Thr
NM_001318831.1:c.3880C>A	NP_001305760.1:p.Pro1294Thr
NM_001318832.1:c.4444C>A	NP_001305761.1:p.Pro1482Thr
NM_001363528.1:c.4414C>A	NP_001350457.1:p.Pro1472Thr
NM_021055.2:c.4483C>A	NP_066399.2:p.Pro1495Thr
XM_005255531.4:c.4414C>A	XP_005255588.2:p.Pro1472Thr
XM_011522636.2:c.4666C>A	XP_011520938.1:p.Pro1556Thr
XM_011522637.2:c.4663C>A	XP_011520939.1:p.Pro1555Thr
XM_011522638.2:c.4828C>A	XP_011520940.2:p.Pro1610Thr
XM_011522639.2:c.4537C>A	XP_011520941.1:p.Pro1513Thr
XM_011522640.2:c.4534C>A	XP_011520942.1:p.Pro1512Thr
XM_017023615.1:c.4609C>A	XP_016879104.1:p.Pro1537Thr
XM_017023616.1:c.4480C>A	XP_016879105.1:p.Pro1494Thr
XM_017023617.1:c.4576C>A	XP_016879106.1:p.Pro1526Thr
XM_017023618.1:c.3322C>A	XP_016879107.1:p.Pro1108Thr
XM_024450413.1:c.4411C>A	XP_024306181.1:p.Pro1471Thr
NM_000548.5:c.4612C>A MANE Select	NP_000539.2:p.Pro1538Thr
NM_001370404.1:c.4480C>A	NP_001357333.1:p.Pro1494Thr
NM_001370405.1:c.4483C>A	NP_001357334.1:p.Pro1495Thr
NM_001077183.3:c.4411C>A	NP_001070651.1:p.Pro1471Thr
NM_001114382.3:c.4543C>A	NP_001107854.1:p.Pro1515Thr
NM_001318827.2:c.4303C>A	NP_001305756.1:p.Pro1435Thr
NM_001318829.2:c.4267C>A	NP_001305758.1:p.Pro1423Thr
NM_001318831.2:c.3880C>A	NP_001305760.1:p.Pro1294Thr
NM_001318832.2:c.4444C>A	NP_001305761.1:p.Pro1482Thr
NM_001363528.2:c.4414C>A	NP_001350457.1:p.Pro1472Thr
NM_021055.3:c.4483C>A	NP_066399.2:p.Pro1495Thr