Canonical Allele Identifier: CA493043733

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2564714
• ClinVar RCV Id: RCV003297146
• dbSNP Id: rs1230726900
• gnomAD v2: 16-2138545-T-G
• gnomAD v4: 16-2088544-T-G
• MyVariant Identifiers: chr16:g.2138545T>G (hg19) ; chr16:g.2088544T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088544T>G , CM000678.2:g.2088544T>G	GRCh38
NC_000016.9:g.2138545T>G , CM000678.1:g.2138545T>G	GRCh37
NC_000016.8:g.2078546T>G	NCBI36
NG_005895.1:g.44239T>G , LRG_487:g.44239T>G
NG_008617.1:g.54677A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3707T>G	ENSP00000455997.2:n.*3707T>G
ENST00000642206.2:c.5205T>G	ENSP00000495146.2:p.Pro1735=
ENST00000642365.2:c.5355T>G	ENSP00000495459.2:p.Pro1785=
ENST00000644417.2:c.*5871T>G	ENSP00000493912.2:n.*5871T>G
ENST00000646464.2:c.*8107T>G	ENSP00000496610.2:n.*8107T>G
ENST00000219476.9:c.5358T>G MANE Select	ENSP00000219476.3:p.Pro1786=
ENST00000350773.9:c.5289T>G	ENSP00000344383.4:p.Pro1763=
ENST00000401874.7:c.5157T>G	ENSP00000384468.2:p.Pro1719=
ENST00000568454.6:c.5190T>G	ENSP00000454487.1:p.Pro1730=
ENST00000569110.2:c.1581T>G
ENST00000569930.2:n.3240T>G
ENST00000642365.1:c.4012T>G
ENST00000642561.1:c.5217T>G	ENSP00000495099.1:p.Pro1739=
ENST00000642791.1:n.955T>G
ENST00000642797.1:c.5160T>G	ENSP00000493846.1:p.Pro1720=
ENST00000642936.1:c.5226T>G	ENSP00000494514.1:p.Pro1742=
ENST00000643088.1:c.5151T>G	ENSP00000494747.1:p.Pro1717=
ENST00000643426.1:n.3006T>G
ENST00000643946.1:c.5283T>G	ENSP00000495927.1:p.Pro1761=
ENST00000644043.1:c.5229T>G	ENSP00000496262.1:p.Pro1743=
ENST00000644329.1:c.5244T>G	ENSP00000496611.1:p.Pro1748=
ENST00000644335.1:c.5154T>G	ENSP00000496317.1:p.Pro1718=
ENST00000644399.1:c.5279T>G
ENST00000645024.1:n.3442T>G
ENST00000646388.1:c.5352T>G	ENSP00000495921.1:p.Pro1784=
ENST00000646634.1:n.4173T>G
ENST00000646674.1:n.2610T>G
ENST00000647042.1:n.2581T>G
ENST00000647180.1:n.2471T>G
ENST00000219476.7:c.5358T>G	ENSP00000219476.3:p.Pro1786=
ENST00000350773.8:c.5289T>G	ENSP00000344383.4:p.Pro1763=
ENST00000382538.10:c.5013T>G	ENSP00000371978.6:p.Pro1671=
ENST00000401874.6:c.5157T>G	ENSP00000384468.2:p.Pro1719=
ENST00000439117.6:c.*4525T>G	ENSP00000406980.2:n.*4525T>G
ENST00000439673.6:c.5049T>G	ENSP00000399232.2:p.Pro1683=
ENST00000497886.5:n.3081T>G
ENST00000568454.5:c.5190T>G	ENSP00000454487.1:p.Pro1730=
ENST00000569110.1:c.1540T>G
ENST00000569930.1:n.2473T>G
NM_000548.3:c.5358T>G , LRG_487t1:c.5358T>G	NP_000539.2:p.Pro1786=
NM_001077183.1:c.5157T>G	NP_001070651.1:p.Pro1719=
NM_001114382.1:c.5289T>G	NP_001107854.1:p.Pro1763=
XM_005255529.3:c.5229T>G	XP_005255586.2:p.Pro1743=
XM_005255531.3:c.5160T>G	XP_005255588.2:p.Pro1720=
XM_011522636.1:c.5412T>G	XP_011520938.1:p.Pro1804=
XM_011522637.1:c.5409T>G	XP_011520939.1:p.Pro1803=
XM_011522638.1:c.5301T>G	XP_011520940.1:p.Pro1767=
XM_011522639.1:c.5283T>G	XP_011520941.1:p.Pro1761=
XM_011522640.1:c.5280T>G	XP_011520942.1:p.Pro1760=
XM_011522641.1:c.5049T>G	XP_011520943.1:p.Pro1683=
NM_000548.4:c.5358T>G	NP_000539.2:p.Pro1786=
NM_001077183.2:c.5157T>G	NP_001070651.1:p.Pro1719=
NM_001114382.2:c.5289T>G	NP_001107854.1:p.Pro1763=
NM_001318827.1:c.5049T>G	NP_001305756.1:p.Pro1683=
NM_001318829.1:c.5013T>G	NP_001305758.1:p.Pro1671=
NM_001318831.1:c.4626T>G	NP_001305760.1:p.Pro1542=
NM_001318832.1:c.5190T>G	NP_001305761.1:p.Pro1730=
NM_001363528.1:c.5160T>G	NP_001350457.1:p.Pro1720=
NM_021055.2:c.5229T>G	NP_066399.2:p.Pro1743=
XM_005255531.4:c.5160T>G	XP_005255588.2:p.Pro1720=
XM_011522636.2:c.5412T>G	XP_011520938.1:p.Pro1804=
XM_011522637.2:c.5409T>G	XP_011520939.1:p.Pro1803=
XM_011522638.2:c.5574T>G	XP_011520940.2:p.Pro1858=
XM_011522639.2:c.5283T>G	XP_011520941.1:p.Pro1761=
XM_011522640.2:c.5280T>G	XP_011520942.1:p.Pro1760=
XM_017023615.1:c.5355T>G	XP_016879104.1:p.Pro1785=
XM_017023616.1:c.5226T>G	XP_016879105.1:p.Pro1742=
XM_017023617.1:c.5322T>G	XP_016879106.1:p.Pro1774=
XM_017023618.1:c.4068T>G	XP_016879107.1:p.Pro1356=
XM_024450413.1:c.5244T>G	XP_024306181.1:p.Pro1748=
NM_000548.5:c.5358T>G MANE Select	NP_000539.2:p.Pro1786=
NM_001370404.1:c.5226T>G	NP_001357333.1:p.Pro1742=
NM_001370405.1:c.5217T>G	NP_001357334.1:p.Pro1739=
NM_001077183.3:c.5157T>G	NP_001070651.1:p.Pro1719=
NM_001114382.3:c.5289T>G	NP_001107854.1:p.Pro1763=
NM_001318827.2:c.5049T>G	NP_001305756.1:p.Pro1683=
NM_001318829.2:c.5013T>G	NP_001305758.1:p.Pro1671=
NM_001318831.2:c.4626T>G	NP_001305760.1:p.Pro1542=
NM_001318832.2:c.5190T>G	NP_001305761.1:p.Pro1730=
NM_001363528.2:c.5160T>G	NP_001350457.1:p.Pro1720=
NM_021055.3:c.5229T>G	NP_066399.2:p.Pro1743=