Canonical Allele Identifier: CA10643155

Gene: TSC2

Linked Data

• ClinVar Variation Id: 318336
• ClinVar RCV Id: RCV000373763
• dbSNP Id: rs886051797
• MyVariant Identifiers: chr16:g.2138454A>G (hg19) ; chr16:g.2088453A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088453A>G , CM000678.2:g.2088453A>G	GRCh38
NC_000016.9:g.2138454A>G , CM000678.1:g.2138454A>G	GRCh37
NC_000016.8:g.2078455A>G	NCBI36
NG_005895.1:g.44148A>G , LRG_487:g.44148A>G
NG_008617.1:g.54768T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3616A>G	ENSP00000455997.2:n.*3616A>G
ENST00000642206.2:c.5114A>G	ENSP00000495146.2:p.Glu1705Gly
ENST00000642365.2:c.5264A>G	ENSP00000495459.2:p.Glu1755Gly
ENST00000644417.2:c.*5780A>G	ENSP00000493912.2:n.*5780A>G
ENST00000646464.2:c.*8016A>G	ENSP00000496610.2:n.*8016A>G
ENST00000219476.9:c.5267A>G MANE Select	ENSP00000219476.3:p.Glu1756Gly
ENST00000350773.9:c.5198A>G	ENSP00000344383.4:p.Glu1733Gly
ENST00000401874.7:c.5066A>G	ENSP00000384468.2:p.Glu1689Gly
ENST00000568454.6:c.5099A>G	ENSP00000454487.1:p.Glu1700Gly
ENST00000569110.2:c.1490A>G
ENST00000569930.2:n.3149A>G
ENST00000642365.1:c.3921A>G
ENST00000642561.1:c.5126A>G	ENSP00000495099.1:p.Glu1709Gly
ENST00000642791.1:n.864A>G
ENST00000642797.1:c.5069A>G	ENSP00000493846.1:p.Glu1690Gly
ENST00000642936.1:c.5135A>G	ENSP00000494514.1:p.Glu1712Gly
ENST00000643088.1:c.5060A>G	ENSP00000494747.1:p.Glu1687Gly
ENST00000643426.1:n.2915A>G
ENST00000643946.1:c.5192A>G	ENSP00000495927.1:p.Glu1731Gly
ENST00000644043.1:c.5138A>G	ENSP00000496262.1:p.Glu1713Gly
ENST00000644329.1:c.5153A>G	ENSP00000496611.1:p.Glu1718Gly
ENST00000644335.1:c.5063A>G	ENSP00000496317.1:p.Glu1688Gly
ENST00000644399.1:c.5188A>G
ENST00000645024.1:n.3351A>G
ENST00000646388.1:c.5261A>G	ENSP00000495921.1:p.Glu1754Gly
ENST00000646634.1:n.4082A>G
ENST00000646674.1:n.2519A>G
ENST00000647042.1:n.2490A>G
ENST00000647180.1:n.2380A>G
ENST00000219476.7:c.5267A>G	ENSP00000219476.3:p.Glu1756Gly
ENST00000350773.8:c.5198A>G	ENSP00000344383.4:p.Glu1733Gly
ENST00000382538.10:c.4922A>G	ENSP00000371978.6:p.Glu1641Gly
ENST00000401874.6:c.5066A>G	ENSP00000384468.2:p.Glu1689Gly
ENST00000439117.6:c.*4434A>G	ENSP00000406980.2:n.*4434A>G
ENST00000439673.6:c.4958A>G	ENSP00000399232.2:p.Glu1653Gly
ENST00000497886.5:n.2990A>G
ENST00000568454.5:c.5099A>G	ENSP00000454487.1:p.Glu1700Gly
ENST00000569110.1:c.1449A>G
ENST00000569930.1:n.2382A>G
NM_000548.3:c.5267A>G , LRG_487t1:c.5267A>G	NP_000539.2:p.Glu1756Gly
NM_001077183.1:c.5066A>G	NP_001070651.1:p.Glu1689Gly
NM_001114382.1:c.5198A>G	NP_001107854.1:p.Glu1733Gly
XM_005255529.3:c.5138A>G	XP_005255586.2:p.Glu1713Gly
XM_005255531.3:c.5069A>G	XP_005255588.2:p.Glu1690Gly
XM_011522636.1:c.5321A>G	XP_011520938.1:p.Glu1774Gly
XM_011522637.1:c.5318A>G	XP_011520939.1:p.Glu1773Gly
XM_011522638.1:c.5210A>G	XP_011520940.1:p.Glu1737Gly
XM_011522639.1:c.5192A>G	XP_011520941.1:p.Glu1731Gly
XM_011522640.1:c.5189A>G	XP_011520942.1:p.Glu1730Gly
XM_011522641.1:c.4958A>G	XP_011520943.1:p.Glu1653Gly
NM_000548.4:c.5267A>G	NP_000539.2:p.Glu1756Gly
NM_001077183.2:c.5066A>G	NP_001070651.1:p.Glu1689Gly
NM_001114382.2:c.5198A>G	NP_001107854.1:p.Glu1733Gly
NM_001318827.1:c.4958A>G	NP_001305756.1:p.Glu1653Gly
NM_001318829.1:c.4922A>G	NP_001305758.1:p.Glu1641Gly
NM_001318831.1:c.4535A>G	NP_001305760.1:p.Glu1512Gly
NM_001318832.1:c.5099A>G	NP_001305761.1:p.Glu1700Gly
NM_001363528.1:c.5069A>G	NP_001350457.1:p.Glu1690Gly
NM_021055.2:c.5138A>G	NP_066399.2:p.Glu1713Gly
XM_005255531.4:c.5069A>G	XP_005255588.2:p.Glu1690Gly
XM_011522636.2:c.5321A>G	XP_011520938.1:p.Glu1774Gly
XM_011522637.2:c.5318A>G	XP_011520939.1:p.Glu1773Gly
XM_011522638.2:c.5483A>G	XP_011520940.2:p.Glu1828Gly
XM_011522639.2:c.5192A>G	XP_011520941.1:p.Glu1731Gly
XM_011522640.2:c.5189A>G	XP_011520942.1:p.Glu1730Gly
XM_017023615.1:c.5264A>G	XP_016879104.1:p.Glu1755Gly
XM_017023616.1:c.5135A>G	XP_016879105.1:p.Glu1712Gly
XM_017023617.1:c.5231A>G	XP_016879106.1:p.Glu1744Gly
XM_017023618.1:c.3977A>G	XP_016879107.1:p.Glu1326Gly
XM_024450413.1:c.5153A>G	XP_024306181.1:p.Glu1718Gly
NM_000548.5:c.5267A>G MANE Select	NP_000539.2:p.Glu1756Gly
NM_001370404.1:c.5135A>G	NP_001357333.1:p.Glu1712Gly
NM_001370405.1:c.5126A>G	NP_001357334.1:p.Glu1709Gly
NM_001077183.3:c.5066A>G	NP_001070651.1:p.Glu1689Gly
NM_001114382.3:c.5198A>G	NP_001107854.1:p.Glu1733Gly
NM_001318827.2:c.4958A>G	NP_001305756.1:p.Glu1653Gly
NM_001318829.2:c.4922A>G	NP_001305758.1:p.Glu1641Gly
NM_001318831.2:c.4535A>G	NP_001305760.1:p.Glu1512Gly
NM_001318832.2:c.5099A>G	NP_001305761.1:p.Glu1700Gly
NM_001363528.2:c.5069A>G	NP_001350457.1:p.Glu1690Gly
NM_021055.3:c.5138A>G	NP_066399.2:p.Glu1713Gly