Canonical Allele Identifier: CA394314359

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138279T>A (hg19) ; chr16:g.2088278T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088278T>A , CM000678.2:g.2088278T>A	GRCh38
NC_000016.9:g.2138279T>A , CM000678.1:g.2138279T>A	GRCh37
NC_000016.8:g.2078280T>A	NCBI36
NG_005895.1:g.43973T>A , LRG_487:g.43973T>A
NG_008617.1:g.54943A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3561T>A	ENSP00000455997.2:n.*3561T>A
ENST00000642206.2:c.5059T>A	ENSP00000495146.2:p.Ser1687Thr
ENST00000642365.2:c.5209T>A	ENSP00000495459.2:p.Ser1737Thr
ENST00000644417.2:c.*5725T>A	ENSP00000493912.2:n.*5725T>A
ENST00000646464.2:c.*7961T>A	ENSP00000496610.2:n.*7961T>A
ENST00000219476.9:c.5212T>A MANE Select	ENSP00000219476.3:p.Ser1738Thr
ENST00000350773.9:c.5143T>A	ENSP00000344383.4:p.Ser1715Thr
ENST00000401874.7:c.5011T>A	ENSP00000384468.2:p.Ser1671Thr
ENST00000568454.6:c.5044T>A	ENSP00000454487.1:p.Ser1682Thr
ENST00000569110.2:c.1435T>A
ENST00000569930.2:n.3094T>A
ENST00000642365.1:c.3866T>A
ENST00000642561.1:c.5071T>A	ENSP00000495099.1:p.Ser1691Thr
ENST00000642791.1:n.809T>A
ENST00000642797.1:c.5014T>A	ENSP00000493846.1:p.Ser1672Thr
ENST00000642936.1:c.5080T>A	ENSP00000494514.1:p.Ser1694Thr
ENST00000643088.1:c.5005T>A	ENSP00000494747.1:p.Ser1669Thr
ENST00000643426.1:n.2860T>A
ENST00000643946.1:c.5137T>A	ENSP00000495927.1:p.Ser1713Thr
ENST00000644043.1:c.5083T>A	ENSP00000496262.1:p.Ser1695Thr
ENST00000644329.1:c.5098T>A	ENSP00000496611.1:p.Ser1700Thr
ENST00000644335.1:c.5008T>A	ENSP00000496317.1:p.Ser1670Thr
ENST00000644399.1:c.5133T>A
ENST00000645024.1:n.3296T>A
ENST00000646388.1:c.5206T>A	ENSP00000495921.1:p.Ser1736Thr
ENST00000646634.1:n.4027T>A
ENST00000646674.1:n.2464T>A
ENST00000647042.1:n.2435T>A
ENST00000647180.1:n.2325T>A
ENST00000219476.7:c.5212T>A	ENSP00000219476.3:p.Ser1738Thr
ENST00000350773.8:c.5143T>A	ENSP00000344383.4:p.Ser1715Thr
ENST00000382538.10:c.4867T>A	ENSP00000371978.6:p.Ser1623Thr
ENST00000401874.6:c.5011T>A	ENSP00000384468.2:p.Ser1671Thr
ENST00000439117.6:c.*4379T>A	ENSP00000406980.2:n.*4379T>A
ENST00000439673.6:c.4903T>A	ENSP00000399232.2:p.Ser1635Thr
ENST00000497886.5:n.2935T>A
ENST00000568454.5:c.5044T>A	ENSP00000454487.1:p.Ser1682Thr
ENST00000569110.1:c.1394T>A
ENST00000569930.1:n.2327T>A
NM_000548.3:c.5212T>A , LRG_487t1:c.5212T>A	NP_000539.2:p.Ser1738Thr
NM_001077183.1:c.5011T>A	NP_001070651.1:p.Ser1671Thr
NM_001114382.1:c.5143T>A	NP_001107854.1:p.Ser1715Thr
XM_005255529.3:c.5083T>A	XP_005255586.2:p.Ser1695Thr
XM_005255531.3:c.5014T>A	XP_005255588.2:p.Ser1672Thr
XM_011522636.1:c.5266T>A	XP_011520938.1:p.Ser1756Thr
XM_011522637.1:c.5263T>A	XP_011520939.1:p.Ser1755Thr
XM_011522638.1:c.5155T>A	XP_011520940.1:p.Ser1719Thr
XM_011522639.1:c.5137T>A	XP_011520941.1:p.Ser1713Thr
XM_011522640.1:c.5134T>A	XP_011520942.1:p.Ser1712Thr
XM_011522641.1:c.4903T>A	XP_011520943.1:p.Ser1635Thr
NM_000548.4:c.5212T>A	NP_000539.2:p.Ser1738Thr
NM_001077183.2:c.5011T>A	NP_001070651.1:p.Ser1671Thr
NM_001114382.2:c.5143T>A	NP_001107854.1:p.Ser1715Thr
NM_001318827.1:c.4903T>A	NP_001305756.1:p.Ser1635Thr
NM_001318829.1:c.4867T>A	NP_001305758.1:p.Ser1623Thr
NM_001318831.1:c.4480T>A	NP_001305760.1:p.Ser1494Thr
NM_001318832.1:c.5044T>A	NP_001305761.1:p.Ser1682Thr
NM_001363528.1:c.5014T>A	NP_001350457.1:p.Ser1672Thr
NM_021055.2:c.5083T>A	NP_066399.2:p.Ser1695Thr
XM_005255531.4:c.5014T>A	XP_005255588.2:p.Ser1672Thr
XM_011522636.2:c.5266T>A	XP_011520938.1:p.Ser1756Thr
XM_011522637.2:c.5263T>A	XP_011520939.1:p.Ser1755Thr
XM_011522638.2:c.5428T>A	XP_011520940.2:p.Ser1810Thr
XM_011522639.2:c.5137T>A	XP_011520941.1:p.Ser1713Thr
XM_011522640.2:c.5134T>A	XP_011520942.1:p.Ser1712Thr
XM_017023615.1:c.5209T>A	XP_016879104.1:p.Ser1737Thr
XM_017023616.1:c.5080T>A	XP_016879105.1:p.Ser1694Thr
XM_017023617.1:c.5176T>A	XP_016879106.1:p.Ser1726Thr
XM_017023618.1:c.3922T>A	XP_016879107.1:p.Ser1308Thr
XM_024450413.1:c.5098T>A	XP_024306181.1:p.Ser1700Thr
NM_000548.5:c.5212T>A MANE Select	NP_000539.2:p.Ser1738Thr
NM_001370404.1:c.5080T>A	NP_001357333.1:p.Ser1694Thr
NM_001370405.1:c.5071T>A	NP_001357334.1:p.Ser1691Thr
NM_001077183.3:c.5011T>A	NP_001070651.1:p.Ser1671Thr
NM_001114382.3:c.5143T>A	NP_001107854.1:p.Ser1715Thr
NM_001318827.2:c.4903T>A	NP_001305756.1:p.Ser1635Thr
NM_001318829.2:c.4867T>A	NP_001305758.1:p.Ser1623Thr
NM_001318831.2:c.4480T>A	NP_001305760.1:p.Ser1494Thr
NM_001318832.2:c.5044T>A	NP_001305761.1:p.Ser1682Thr
NM_001363528.2:c.5014T>A	NP_001350457.1:p.Ser1672Thr
NM_021055.3:c.5083T>A	NP_066399.2:p.Ser1695Thr