Canonical Allele Identifier: CA021508

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65153
• ClinVar RCV Id: RCV000055369 ; RCV002336203 ; RCV001342211
• dbSNP Id: rs45490993
• MyVariant Identifiers: chr16:g.2137891G>T (hg19) ; chr16:g.2087890G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2087890G>T , CM000678.2:g.2087890G>T	GRCh38
NC_000016.9:g.2137891G>T , CM000678.1:g.2137891G>T	GRCh37
NC_000016.8:g.2077892G>T	NCBI36
NG_005895.1:g.43585G>T , LRG_487:g.43585G>T
NG_008617.1:g.55331C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3366G>T	ENSP00000455997.2:n.*3366G>T
ENST00000642206.2:c.4864G>T	ENSP00000495146.2:p.Val1622Phe
ENST00000642365.2:c.5014G>T	ENSP00000495459.2:p.Val1672Phe
ENST00000644417.2:c.*5530G>T	ENSP00000493912.2:n.*5530G>T
ENST00000646464.2:c.*7766G>T	ENSP00000496610.2:n.*7766G>T
ENST00000219476.9:c.5017G>T MANE Select	ENSP00000219476.3:p.Val1673Phe
ENST00000350773.9:c.4948G>T	ENSP00000344383.4:p.Val1650Phe
ENST00000401874.7:c.4816G>T	ENSP00000384468.2:p.Val1606Phe
ENST00000568454.6:c.4849G>T	ENSP00000454487.1:p.Val1617Phe
ENST00000569110.2:c.1240G>T
ENST00000569930.2:n.2899G>T
ENST00000642365.1:c.3671G>T
ENST00000642561.1:c.4888G>T	ENSP00000495099.1:p.Val1630Phe
ENST00000642791.1:n.614G>T
ENST00000642797.1:c.4819G>T	ENSP00000493846.1:p.Val1607Phe
ENST00000642936.1:c.4885G>T	ENSP00000494514.1:p.Val1629Phe
ENST00000643088.1:c.4810G>T	ENSP00000494747.1:p.Val1604Phe
ENST00000643177.1:n.1031G>T
ENST00000643426.1:n.2665G>T
ENST00000643946.1:c.4942G>T	ENSP00000495927.1:p.Val1648Phe
ENST00000644043.1:c.4888G>T	ENSP00000496262.1:p.Val1630Phe
ENST00000644278.1:n.499G>T
ENST00000644329.1:c.4816G>T	ENSP00000496611.1:p.Val1606Phe
ENST00000644335.1:c.4813G>T	ENSP00000496317.1:p.Val1605Phe
ENST00000644399.1:c.4938G>T
ENST00000645024.1:n.3101G>T
ENST00000646388.1:c.5011G>T	ENSP00000495921.1:p.Val1671Phe
ENST00000646634.1:n.3832G>T
ENST00000646674.1:n.2269G>T
ENST00000647042.1:n.2240G>T
ENST00000647180.1:n.2130G>T
ENST00000219476.7:c.5017G>T	ENSP00000219476.3:p.Val1673Phe
ENST00000350773.8:c.4948G>T	ENSP00000344383.4:p.Val1650Phe
ENST00000382538.10:c.4672G>T	ENSP00000371978.6:p.Val1558Phe
ENST00000401874.6:c.4816G>T	ENSP00000384468.2:p.Val1606Phe
ENST00000439117.6:c.*4184G>T	ENSP00000406980.2:n.*4184G>T
ENST00000439673.6:c.4708G>T	ENSP00000399232.2:p.Val1570Phe
ENST00000497886.5:n.2740G>T
ENST00000568454.5:c.4849G>T	ENSP00000454487.1:p.Val1617Phe
ENST00000569110.1:c.1199G>T
ENST00000569930.1:n.2132G>T
NM_000548.3:c.5017G>T , LRG_487t1:c.5017G>T	NP_000539.2:p.Val1673Phe
NM_001077183.1:c.4816G>T	NP_001070651.1:p.Val1606Phe
NM_001114382.1:c.4948G>T	NP_001107854.1:p.Val1650Phe
XM_005255529.3:c.4888G>T	XP_005255586.2:p.Val1630Phe
XM_005255531.3:c.4819G>T	XP_005255588.2:p.Val1607Phe
XM_011522636.1:c.5071G>T	XP_011520938.1:p.Val1691Phe
XM_011522637.1:c.5068G>T	XP_011520939.1:p.Val1690Phe
XM_011522638.1:c.4960G>T	XP_011520940.1:p.Val1654Phe
XM_011522639.1:c.4942G>T	XP_011520941.1:p.Val1648Phe
XM_011522640.1:c.4939G>T	XP_011520942.1:p.Val1647Phe
XM_011522641.1:c.4708G>T	XP_011520943.1:p.Val1570Phe
NM_000548.4:c.5017G>T	NP_000539.2:p.Val1673Phe
NM_001077183.2:c.4816G>T	NP_001070651.1:p.Val1606Phe
NM_001114382.2:c.4948G>T	NP_001107854.1:p.Val1650Phe
NM_001318827.1:c.4708G>T	NP_001305756.1:p.Val1570Phe
NM_001318829.1:c.4672G>T	NP_001305758.1:p.Val1558Phe
NM_001318831.1:c.4285G>T	NP_001305760.1:p.Val1429Phe
NM_001318832.1:c.4849G>T	NP_001305761.1:p.Val1617Phe
NM_001363528.1:c.4819G>T	NP_001350457.1:p.Val1607Phe
NM_021055.2:c.4888G>T	NP_066399.2:p.Val1630Phe
XM_005255531.4:c.4819G>T	XP_005255588.2:p.Val1607Phe
XM_011522636.2:c.5071G>T	XP_011520938.1:p.Val1691Phe
XM_011522637.2:c.5068G>T	XP_011520939.1:p.Val1690Phe
XM_011522638.2:c.5233G>T	XP_011520940.2:p.Val1745Phe
XM_011522639.2:c.4942G>T	XP_011520941.1:p.Val1648Phe
XM_011522640.2:c.4939G>T	XP_011520942.1:p.Val1647Phe
XM_017023615.1:c.5014G>T	XP_016879104.1:p.Val1672Phe
XM_017023616.1:c.4885G>T	XP_016879105.1:p.Val1629Phe
XM_017023617.1:c.4981G>T	XP_016879106.1:p.Val1661Phe
XM_017023618.1:c.3727G>T	XP_016879107.1:p.Val1243Phe
XM_024450413.1:c.4816G>T	XP_024306181.1:p.Val1606Phe
NM_000548.5:c.5017G>T MANE Select	NP_000539.2:p.Val1673Phe
NM_001370404.1:c.4885G>T	NP_001357333.1:p.Val1629Phe
NM_001370405.1:c.4888G>T	NP_001357334.1:p.Val1630Phe
NM_001077183.3:c.4816G>T	NP_001070651.1:p.Val1606Phe
NM_001114382.3:c.4948G>T	NP_001107854.1:p.Val1650Phe
NM_001318827.2:c.4708G>T	NP_001305756.1:p.Val1570Phe
NM_001318829.2:c.4672G>T	NP_001305758.1:p.Val1558Phe
NM_001318831.2:c.4285G>T	NP_001305760.1:p.Val1429Phe
NM_001318832.2:c.4849G>T	NP_001305761.1:p.Val1617Phe
NM_001363528.2:c.4819G>T	NP_001350457.1:p.Val1607Phe
NM_021055.3:c.4888G>T	NP_066399.2:p.Val1630Phe