Canonical Allele Identifier: CA394314672

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2564709
• ClinVar RCV Id: RCV003297141
• dbSNP Id: rs753424501
• MyVariant Identifiers: chr16:g.2138310A>C (hg19) ; chr16:g.2088309A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088309A>C , CM000678.2:g.2088309A>C	GRCh38
NC_000016.9:g.2138310A>C , CM000678.1:g.2138310A>C	GRCh37
NC_000016.8:g.2078311A>C	NCBI36
NG_005895.1:g.44004A>C , LRG_487:g.44004A>C
NG_008617.1:g.54912T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3592A>C	ENSP00000455997.2:n.*3592A>C
ENST00000642206.2:c.5090A>C	ENSP00000495146.2:p.Lys1697Thr
ENST00000642365.2:c.5240A>C	ENSP00000495459.2:p.Lys1747Thr
ENST00000644417.2:c.*5756A>C	ENSP00000493912.2:n.*5756A>C
ENST00000646464.2:c.*7992A>C	ENSP00000496610.2:n.*7992A>C
ENST00000219476.9:c.5243A>C MANE Select	ENSP00000219476.3:p.Lys1748Thr
ENST00000350773.9:c.5174A>C	ENSP00000344383.4:p.Lys1725Thr
ENST00000401874.7:c.5042A>C	ENSP00000384468.2:p.Lys1681Thr
ENST00000568454.6:c.5075A>C	ENSP00000454487.1:p.Lys1692Thr
ENST00000569110.2:c.1466A>C
ENST00000569930.2:n.3125A>C
ENST00000642365.1:c.3897A>C
ENST00000642561.1:c.5102A>C	ENSP00000495099.1:p.Lys1701Thr
ENST00000642791.1:n.840A>C
ENST00000642797.1:c.5045A>C	ENSP00000493846.1:p.Lys1682Thr
ENST00000642936.1:c.5111A>C	ENSP00000494514.1:p.Lys1704Thr
ENST00000643088.1:c.5036A>C	ENSP00000494747.1:p.Lys1679Thr
ENST00000643426.1:n.2891A>C
ENST00000643946.1:c.5168A>C	ENSP00000495927.1:p.Lys1723Thr
ENST00000644043.1:c.5114A>C	ENSP00000496262.1:p.Lys1705Thr
ENST00000644329.1:c.5129A>C	ENSP00000496611.1:p.Lys1710Thr
ENST00000644335.1:c.5039A>C	ENSP00000496317.1:p.Lys1680Thr
ENST00000644399.1:c.5164A>C
ENST00000645024.1:n.3327A>C
ENST00000646388.1:c.5237A>C	ENSP00000495921.1:p.Lys1746Thr
ENST00000646634.1:n.4058A>C
ENST00000646674.1:n.2495A>C
ENST00000647042.1:n.2466A>C
ENST00000647180.1:n.2356A>C
ENST00000219476.7:c.5243A>C	ENSP00000219476.3:p.Lys1748Thr
ENST00000350773.8:c.5174A>C	ENSP00000344383.4:p.Lys1725Thr
ENST00000382538.10:c.4898A>C	ENSP00000371978.6:p.Lys1633Thr
ENST00000401874.6:c.5042A>C	ENSP00000384468.2:p.Lys1681Thr
ENST00000439117.6:c.*4410A>C	ENSP00000406980.2:n.*4410A>C
ENST00000439673.6:c.4934A>C	ENSP00000399232.2:p.Lys1645Thr
ENST00000497886.5:n.2966A>C
ENST00000568454.5:c.5075A>C	ENSP00000454487.1:p.Lys1692Thr
ENST00000569110.1:c.1425A>C
ENST00000569930.1:n.2358A>C
NM_000548.3:c.5243A>C , LRG_487t1:c.5243A>C	NP_000539.2:p.Lys1748Thr
NM_001077183.1:c.5042A>C	NP_001070651.1:p.Lys1681Thr
NM_001114382.1:c.5174A>C	NP_001107854.1:p.Lys1725Thr
XM_005255529.3:c.5114A>C	XP_005255586.2:p.Lys1705Thr
XM_005255531.3:c.5045A>C	XP_005255588.2:p.Lys1682Thr
XM_011522636.1:c.5297A>C	XP_011520938.1:p.Lys1766Thr
XM_011522637.1:c.5294A>C	XP_011520939.1:p.Lys1765Thr
XM_011522638.1:c.5186A>C	XP_011520940.1:p.Lys1729Thr
XM_011522639.1:c.5168A>C	XP_011520941.1:p.Lys1723Thr
XM_011522640.1:c.5165A>C	XP_011520942.1:p.Lys1722Thr
XM_011522641.1:c.4934A>C	XP_011520943.1:p.Lys1645Thr
NM_000548.4:c.5243A>C	NP_000539.2:p.Lys1748Thr
NM_001077183.2:c.5042A>C	NP_001070651.1:p.Lys1681Thr
NM_001114382.2:c.5174A>C	NP_001107854.1:p.Lys1725Thr
NM_001318827.1:c.4934A>C	NP_001305756.1:p.Lys1645Thr
NM_001318829.1:c.4898A>C	NP_001305758.1:p.Lys1633Thr
NM_001318831.1:c.4511A>C	NP_001305760.1:p.Lys1504Thr
NM_001318832.1:c.5075A>C	NP_001305761.1:p.Lys1692Thr
NM_001363528.1:c.5045A>C	NP_001350457.1:p.Lys1682Thr
NM_021055.2:c.5114A>C	NP_066399.2:p.Lys1705Thr
XM_005255531.4:c.5045A>C	XP_005255588.2:p.Lys1682Thr
XM_011522636.2:c.5297A>C	XP_011520938.1:p.Lys1766Thr
XM_011522637.2:c.5294A>C	XP_011520939.1:p.Lys1765Thr
XM_011522638.2:c.5459A>C	XP_011520940.2:p.Lys1820Thr
XM_011522639.2:c.5168A>C	XP_011520941.1:p.Lys1723Thr
XM_011522640.2:c.5165A>C	XP_011520942.1:p.Lys1722Thr
XM_017023615.1:c.5240A>C	XP_016879104.1:p.Lys1747Thr
XM_017023616.1:c.5111A>C	XP_016879105.1:p.Lys1704Thr
XM_017023617.1:c.5207A>C	XP_016879106.1:p.Lys1736Thr
XM_017023618.1:c.3953A>C	XP_016879107.1:p.Lys1318Thr
XM_024450413.1:c.5129A>C	XP_024306181.1:p.Lys1710Thr
NM_000548.5:c.5243A>C MANE Select	NP_000539.2:p.Lys1748Thr
NM_001370404.1:c.5111A>C	NP_001357333.1:p.Lys1704Thr
NM_001370405.1:c.5102A>C	NP_001357334.1:p.Lys1701Thr
NM_001077183.3:c.5042A>C	NP_001070651.1:p.Lys1681Thr
NM_001114382.3:c.5174A>C	NP_001107854.1:p.Lys1725Thr
NM_001318827.2:c.4934A>C	NP_001305756.1:p.Lys1645Thr
NM_001318829.2:c.4898A>C	NP_001305758.1:p.Lys1633Thr
NM_001318831.2:c.4511A>C	NP_001305760.1:p.Lys1504Thr
NM_001318832.2:c.5075A>C	NP_001305761.1:p.Lys1692Thr
NM_001363528.2:c.5045A>C	NP_001350457.1:p.Lys1682Thr
NM_021055.3:c.5114A>C	NP_066399.2:p.Lys1705Thr