Canonical Allele Identifier: CA021789

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49350
• ClinVar RCV Id: RCV000042610 ; RCV000517378
• dbSNP Id: rs45517393
• MyVariant Identifiers: chr16:g.2138106C>G (hg19) ; chr16:g.2088105C>G (hg38)
• PubMed: PMID:11112665 ; PMID:12136241 ; PMID:15072102 ; PMID:23514105

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088105C>G , CM000678.2:g.2088105C>G	GRCh38
NC_000016.9:g.2138106C>G , CM000678.1:g.2138106C>G	GRCh37
NC_000016.8:g.2078107C>G	NCBI36
NG_005895.1:g.43800C>G , LRG_487:g.43800C>G
NG_008617.1:g.55116G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3475C>G	ENSP00000455997.2:n.*3475C>G
ENST00000642206.2:c.4973C>G	ENSP00000495146.2:p.Pro1658Arg
ENST00000642365.2:c.5123C>G	ENSP00000495459.2:p.Pro1708Arg
ENST00000644417.2:c.*5639C>G	ENSP00000493912.2:n.*5639C>G
ENST00000646464.2:c.*7875C>G	ENSP00000496610.2:n.*7875C>G
ENST00000219476.9:c.5126C>G MANE Select	ENSP00000219476.3:p.Pro1709Arg
ENST00000350773.9:c.5057C>G	ENSP00000344383.4:p.Pro1686Arg
ENST00000401874.7:c.4925C>G	ENSP00000384468.2:p.Pro1642Arg
ENST00000568454.6:c.4958C>G	ENSP00000454487.1:p.Pro1653Arg
ENST00000569110.2:c.1349C>G
ENST00000569930.2:n.3008C>G
ENST00000642365.1:c.3780C>G
ENST00000642561.1:c.4997C>G	ENSP00000495099.1:p.Pro1666Arg
ENST00000642791.1:n.723C>G
ENST00000642797.1:c.4928C>G	ENSP00000493846.1:p.Pro1643Arg
ENST00000642936.1:c.4994C>G	ENSP00000494514.1:p.Pro1665Arg
ENST00000643088.1:c.4919C>G	ENSP00000494747.1:p.Pro1640Arg
ENST00000643426.1:n.2774C>G
ENST00000643946.1:c.5051C>G	ENSP00000495927.1:p.Pro1684Arg
ENST00000644043.1:c.4997C>G	ENSP00000496262.1:p.Pro1666Arg
ENST00000644329.1:c.4925C>G	ENSP00000496611.1:p.Pro1642Arg
ENST00000644335.1:c.4922C>G	ENSP00000496317.1:p.Pro1641Arg
ENST00000644399.1:c.5047C>G
ENST00000645024.1:n.3210C>G
ENST00000646388.1:c.5120C>G	ENSP00000495921.1:p.Pro1707Arg
ENST00000646634.1:n.3941C>G
ENST00000646674.1:n.2378C>G
ENST00000647042.1:n.2349C>G
ENST00000647180.1:n.2239C>G
ENST00000219476.7:c.5126C>G	ENSP00000219476.3:p.Pro1709Arg
ENST00000350773.8:c.5057C>G	ENSP00000344383.4:p.Pro1686Arg
ENST00000382538.10:c.4781C>G	ENSP00000371978.6:p.Pro1594Arg
ENST00000401874.6:c.4925C>G	ENSP00000384468.2:p.Pro1642Arg
ENST00000439117.6:c.*4293C>G	ENSP00000406980.2:n.*4293C>G
ENST00000439673.6:c.4817C>G	ENSP00000399232.2:p.Pro1606Arg
ENST00000497886.5:n.2849C>G
ENST00000568454.5:c.4958C>G	ENSP00000454487.1:p.Pro1653Arg
ENST00000569110.1:c.1308C>G
ENST00000569930.1:n.2241C>G
NM_000548.3:c.5126C>G , LRG_487t1:c.5126C>G	NP_000539.2:p.Pro1709Arg
NM_001077183.1:c.4925C>G	NP_001070651.1:p.Pro1642Arg
NM_001114382.1:c.5057C>G	NP_001107854.1:p.Pro1686Arg
XM_005255529.3:c.4997C>G	XP_005255586.2:p.Pro1666Arg
XM_005255531.3:c.4928C>G	XP_005255588.2:p.Pro1643Arg
XM_011522636.1:c.5180C>G	XP_011520938.1:p.Pro1727Arg
XM_011522637.1:c.5177C>G	XP_011520939.1:p.Pro1726Arg
XM_011522638.1:c.5069C>G	XP_011520940.1:p.Pro1690Arg
XM_011522639.1:c.5051C>G	XP_011520941.1:p.Pro1684Arg
XM_011522640.1:c.5048C>G	XP_011520942.1:p.Pro1683Arg
XM_011522641.1:c.4817C>G	XP_011520943.1:p.Pro1606Arg
NM_000548.4:c.5126C>G	NP_000539.2:p.Pro1709Arg
NM_001077183.2:c.4925C>G	NP_001070651.1:p.Pro1642Arg
NM_001114382.2:c.5057C>G	NP_001107854.1:p.Pro1686Arg
NM_001318827.1:c.4817C>G	NP_001305756.1:p.Pro1606Arg
NM_001318829.1:c.4781C>G	NP_001305758.1:p.Pro1594Arg
NM_001318831.1:c.4394C>G	NP_001305760.1:p.Pro1465Arg
NM_001318832.1:c.4958C>G	NP_001305761.1:p.Pro1653Arg
NM_001363528.1:c.4928C>G	NP_001350457.1:p.Pro1643Arg
NM_021055.2:c.4997C>G	NP_066399.2:p.Pro1666Arg
XM_005255531.4:c.4928C>G	XP_005255588.2:p.Pro1643Arg
XM_011522636.2:c.5180C>G	XP_011520938.1:p.Pro1727Arg
XM_011522637.2:c.5177C>G	XP_011520939.1:p.Pro1726Arg
XM_011522638.2:c.5342C>G	XP_011520940.2:p.Pro1781Arg
XM_011522639.2:c.5051C>G	XP_011520941.1:p.Pro1684Arg
XM_011522640.2:c.5048C>G	XP_011520942.1:p.Pro1683Arg
XM_017023615.1:c.5123C>G	XP_016879104.1:p.Pro1708Arg
XM_017023616.1:c.4994C>G	XP_016879105.1:p.Pro1665Arg
XM_017023617.1:c.5090C>G	XP_016879106.1:p.Pro1697Arg
XM_017023618.1:c.3836C>G	XP_016879107.1:p.Pro1279Arg
XM_024450413.1:c.4925C>G	XP_024306181.1:p.Pro1642Arg
NM_000548.5:c.5126C>G MANE Select	NP_000539.2:p.Pro1709Arg
NM_001370404.1:c.4994C>G	NP_001357333.1:p.Pro1665Arg
NM_001370405.1:c.4997C>G	NP_001357334.1:p.Pro1666Arg
NM_001077183.3:c.4925C>G	NP_001070651.1:p.Pro1642Arg
NM_001114382.3:c.5057C>G	NP_001107854.1:p.Pro1686Arg
NM_001318827.2:c.4817C>G	NP_001305756.1:p.Pro1606Arg
NM_001318829.2:c.4781C>G	NP_001305758.1:p.Pro1594Arg
NM_001318831.2:c.4394C>G	NP_001305760.1:p.Pro1465Arg
NM_001318832.2:c.4958C>G	NP_001305761.1:p.Pro1653Arg
NM_001363528.2:c.4928C>G	NP_001350457.1:p.Pro1643Arg
NM_021055.3:c.4997C>G	NP_066399.2:p.Pro1666Arg