Canonical Allele Identifier: CA054437

Gene: TSC2

Linked Data

• ClinVar Variation Id: 238078
• ClinVar RCV Id: RCV000226974 ; RCV000564490 ; RCV001675679 ; RCV003998837
• dbSNP Id: rs780112037
• ExAC: 16:2138276 C / T
• gnomAD v2: 16-2138276-C-T
• gnomAD v3: 16-2088275-C-T
• gnomAD v4: 16-2088275-C-T
• MyVariant Identifiers: chr16:g.2138276C>T (hg19) ; chr16:g.2088275C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088275C>T , CM000678.2:g.2088275C>T	GRCh38
NC_000016.9:g.2138276C>T , CM000678.1:g.2138276C>T	GRCh37
NC_000016.8:g.2078277C>T	NCBI36
NG_005895.1:g.43970C>T , LRG_487:g.43970C>T
NG_008617.1:g.54946G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3558C>T	ENSP00000455997.2:n.*3558C>T
ENST00000642206.2:c.5056C>T	ENSP00000495146.2:p.Pro1686Ser
ENST00000642365.2:c.5206C>T	ENSP00000495459.2:p.Pro1736Ser
ENST00000644417.2:c.*5722C>T	ENSP00000493912.2:n.*5722C>T
ENST00000646464.2:c.*7958C>T	ENSP00000496610.2:n.*7958C>T
ENST00000219476.9:c.5209C>T MANE Select	ENSP00000219476.3:p.Pro1737Ser
ENST00000350773.9:c.5140C>T	ENSP00000344383.4:p.Pro1714Ser
ENST00000401874.7:c.5008C>T	ENSP00000384468.2:p.Pro1670Ser
ENST00000568454.6:c.5041C>T	ENSP00000454487.1:p.Pro1681Ser
ENST00000569110.2:c.1432C>T
ENST00000569930.2:n.3091C>T
ENST00000642365.1:c.3863C>T
ENST00000642561.1:c.5068C>T	ENSP00000495099.1:p.Pro1690Ser
ENST00000642791.1:n.806C>T
ENST00000642797.1:c.5011C>T	ENSP00000493846.1:p.Pro1671Ser
ENST00000642936.1:c.5077C>T	ENSP00000494514.1:p.Pro1693Ser
ENST00000643088.1:c.5002C>T	ENSP00000494747.1:p.Pro1668Ser
ENST00000643426.1:n.2857C>T
ENST00000643946.1:c.5134C>T	ENSP00000495927.1:p.Pro1712Ser
ENST00000644043.1:c.5080C>T	ENSP00000496262.1:p.Pro1694Ser
ENST00000644329.1:c.5095C>T	ENSP00000496611.1:p.Pro1699Ser
ENST00000644335.1:c.5005C>T	ENSP00000496317.1:p.Pro1669Ser
ENST00000644399.1:c.5130C>T
ENST00000645024.1:n.3293C>T
ENST00000646388.1:c.5203C>T	ENSP00000495921.1:p.Pro1735Ser
ENST00000646634.1:n.4024C>T
ENST00000646674.1:n.2461C>T
ENST00000647042.1:n.2432C>T
ENST00000647180.1:n.2322C>T
ENST00000219476.7:c.5209C>T	ENSP00000219476.3:p.Pro1737Ser
ENST00000350773.8:c.5140C>T	ENSP00000344383.4:p.Pro1714Ser
ENST00000382538.10:c.4864C>T	ENSP00000371978.6:p.Pro1622Ser
ENST00000401874.6:c.5008C>T	ENSP00000384468.2:p.Pro1670Ser
ENST00000439117.6:c.*4376C>T	ENSP00000406980.2:n.*4376C>T
ENST00000439673.6:c.4900C>T	ENSP00000399232.2:p.Pro1634Ser
ENST00000497886.5:n.2932C>T
ENST00000568454.5:c.5041C>T	ENSP00000454487.1:p.Pro1681Ser
ENST00000569110.1:c.1391C>T
ENST00000569930.1:n.2324C>T
NM_000548.3:c.5209C>T , LRG_487t1:c.5209C>T	NP_000539.2:p.Pro1737Ser
NM_001077183.1:c.5008C>T	NP_001070651.1:p.Pro1670Ser
NM_001114382.1:c.5140C>T	NP_001107854.1:p.Pro1714Ser
XM_005255529.3:c.5080C>T	XP_005255586.2:p.Pro1694Ser
XM_005255531.3:c.5011C>T	XP_005255588.2:p.Pro1671Ser
XM_011522636.1:c.5263C>T	XP_011520938.1:p.Pro1755Ser
XM_011522637.1:c.5260C>T	XP_011520939.1:p.Pro1754Ser
XM_011522638.1:c.5152C>T	XP_011520940.1:p.Pro1718Ser
XM_011522639.1:c.5134C>T	XP_011520941.1:p.Pro1712Ser
XM_011522640.1:c.5131C>T	XP_011520942.1:p.Pro1711Ser
XM_011522641.1:c.4900C>T	XP_011520943.1:p.Pro1634Ser
NM_000548.4:c.5209C>T	NP_000539.2:p.Pro1737Ser
NM_001077183.2:c.5008C>T	NP_001070651.1:p.Pro1670Ser
NM_001114382.2:c.5140C>T	NP_001107854.1:p.Pro1714Ser
NM_001318827.1:c.4900C>T	NP_001305756.1:p.Pro1634Ser
NM_001318829.1:c.4864C>T	NP_001305758.1:p.Pro1622Ser
NM_001318831.1:c.4477C>T	NP_001305760.1:p.Pro1493Ser
NM_001318832.1:c.5041C>T	NP_001305761.1:p.Pro1681Ser
NM_001363528.1:c.5011C>T	NP_001350457.1:p.Pro1671Ser
NM_021055.2:c.5080C>T	NP_066399.2:p.Pro1694Ser
XM_005255531.4:c.5011C>T	XP_005255588.2:p.Pro1671Ser
XM_011522636.2:c.5263C>T	XP_011520938.1:p.Pro1755Ser
XM_011522637.2:c.5260C>T	XP_011520939.1:p.Pro1754Ser
XM_011522638.2:c.5425C>T	XP_011520940.2:p.Pro1809Ser
XM_011522639.2:c.5134C>T	XP_011520941.1:p.Pro1712Ser
XM_011522640.2:c.5131C>T	XP_011520942.1:p.Pro1711Ser
XM_017023615.1:c.5206C>T	XP_016879104.1:p.Pro1736Ser
XM_017023616.1:c.5077C>T	XP_016879105.1:p.Pro1693Ser
XM_017023617.1:c.5173C>T	XP_016879106.1:p.Pro1725Ser
XM_017023618.1:c.3919C>T	XP_016879107.1:p.Pro1307Ser
XM_024450413.1:c.5095C>T	XP_024306181.1:p.Pro1699Ser
NM_000548.5:c.5209C>T MANE Select	NP_000539.2:p.Pro1737Ser
NM_001370404.1:c.5077C>T	NP_001357333.1:p.Pro1693Ser
NM_001370405.1:c.5068C>T	NP_001357334.1:p.Pro1690Ser
NM_001077183.3:c.5008C>T	NP_001070651.1:p.Pro1670Ser
NM_001114382.3:c.5140C>T	NP_001107854.1:p.Pro1714Ser
NM_001318827.2:c.4900C>T	NP_001305756.1:p.Pro1634Ser
NM_001318829.2:c.4864C>T	NP_001305758.1:p.Pro1622Ser
NM_001318831.2:c.4477C>T	NP_001305760.1:p.Pro1493Ser
NM_001318832.2:c.5041C>T	NP_001305761.1:p.Pro1681Ser
NM_001363528.2:c.5011C>T	NP_001350457.1:p.Pro1671Ser
NM_021055.3:c.5080C>T	NP_066399.2:p.Pro1694Ser