Canonical Allele Identifier: CA394304898

Gene: TSC2

Linked Data

• ClinVar Variation Id: 838523
• ClinVar RCV Id: RCV001040088 ; RCV001813810 ; RCV002339198
• dbSNP Id: rs757388437
• gnomAD v4: 16-2085295-C-G
• MyVariant Identifiers: chr16:g.2135296C>G (hg19) ; chr16:g.2085295C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085295C>G , CM000678.2:g.2085295C>G	GRCh38
NC_000016.9:g.2135296C>G , CM000678.1:g.2135296C>G	GRCh37
NC_000016.8:g.2075297C>G	NCBI36
NG_005895.1:g.40990C>G , LRG_487:g.40990C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2984C>G	ENSP00000455997.2:n.*2984C>G
ENST00000642206.2:c.4482C>G	ENSP00000495146.2:p.Ile1494Met
ENST00000642365.2:c.4632C>G	ENSP00000495459.2:p.Ile1544Met
ENST00000644417.2:c.*5015C>G	ENSP00000493912.2:n.*5015C>G
ENST00000646464.2:c.*7384C>G	ENSP00000496610.2:n.*7384C>G
ENST00000219476.9:c.4635C>G MANE Select	ENSP00000219476.3:p.Ile1545Met
ENST00000350773.9:c.4566C>G	ENSP00000344383.4:p.Ile1522Met
ENST00000401874.7:c.4434C>G	ENSP00000384468.2:p.Ile1478Met
ENST00000568454.6:c.4467C>G	ENSP00000454487.1:p.Ile1489Met
ENST00000569110.2:c.858C>G
ENST00000569930.2:n.2517C>G
ENST00000642365.1:c.3289C>G
ENST00000642561.1:c.4506C>G	ENSP00000495099.1:p.Ile1502Met
ENST00000642728.1:n.817C>G
ENST00000642791.1:n.232C>G
ENST00000642797.1:c.4437C>G	ENSP00000493846.1:p.Ile1479Met
ENST00000642936.1:c.4503C>G	ENSP00000494514.1:p.Ile1501Met
ENST00000643088.1:c.4428C>G	ENSP00000494747.1:p.Ile1476Met
ENST00000643177.1:n.649C>G
ENST00000643426.1:n.2283C>G
ENST00000643946.1:c.4560C>G	ENSP00000495927.1:p.Ile1520Met
ENST00000644043.1:c.4506C>G	ENSP00000496262.1:p.Ile1502Met
ENST00000644278.1:n.117C>G
ENST00000644329.1:c.4434C>G	ENSP00000496611.1:p.Ile1478Met
ENST00000644335.1:c.4431C>G	ENSP00000496317.1:p.Ile1477Met
ENST00000644399.1:c.4556C>G
ENST00000645024.1:n.2719C>G
ENST00000646388.1:c.4629C>G	ENSP00000495921.1:p.Ile1543Met
ENST00000646634.1:n.3450C>G
ENST00000646674.1:n.1887C>G
ENST00000647042.1:n.1858C>G
ENST00000647180.1:n.1748C>G
ENST00000219476.7:c.4635C>G	ENSP00000219476.3:p.Ile1545Met
ENST00000350773.8:c.4566C>G	ENSP00000344383.4:p.Ile1522Met
ENST00000382538.10:c.4290C>G	ENSP00000371978.6:p.Ile1430Met
ENST00000401874.6:c.4434C>G	ENSP00000384468.2:p.Ile1478Met
ENST00000439117.6:c.*3802C>G	ENSP00000406980.2:n.*3802C>G
ENST00000439673.6:c.4326C>G	ENSP00000399232.2:p.Ile1442Met
ENST00000497886.5:n.2393C>G
ENST00000568454.5:c.4467C>G	ENSP00000454487.1:p.Ile1489Met
ENST00000569110.1:c.817C>G
ENST00000569930.1:n.1750C>G
NM_000548.3:c.4635C>G , LRG_487t1:c.4635C>G	NP_000539.2:p.Ile1545Met
NM_001077183.1:c.4434C>G	NP_001070651.1:p.Ile1478Met
NM_001114382.1:c.4566C>G	NP_001107854.1:p.Ile1522Met
XM_005255529.3:c.4506C>G	XP_005255586.2:p.Ile1502Met
XM_005255531.3:c.4437C>G	XP_005255588.2:p.Ile1479Met
XM_011522636.1:c.4689C>G	XP_011520938.1:p.Ile1563Met
XM_011522637.1:c.4686C>G	XP_011520939.1:p.Ile1562Met
XM_011522638.1:c.4578C>G	XP_011520940.1:p.Ile1526Met
XM_011522639.1:c.4560C>G	XP_011520941.1:p.Ile1520Met
XM_011522640.1:c.4557C>G	XP_011520942.1:p.Ile1519Met
XM_011522641.1:c.4326C>G	XP_011520943.1:p.Ile1442Met
NM_000548.4:c.4635C>G	NP_000539.2:p.Ile1545Met
NM_001077183.2:c.4434C>G	NP_001070651.1:p.Ile1478Met
NM_001114382.2:c.4566C>G	NP_001107854.1:p.Ile1522Met
NM_001318827.1:c.4326C>G	NP_001305756.1:p.Ile1442Met
NM_001318829.1:c.4290C>G	NP_001305758.1:p.Ile1430Met
NM_001318831.1:c.3903C>G	NP_001305760.1:p.Ile1301Met
NM_001318832.1:c.4467C>G	NP_001305761.1:p.Ile1489Met
NM_001363528.1:c.4437C>G	NP_001350457.1:p.Ile1479Met
NM_021055.2:c.4506C>G	NP_066399.2:p.Ile1502Met
XM_005255531.4:c.4437C>G	XP_005255588.2:p.Ile1479Met
XM_011522636.2:c.4689C>G	XP_011520938.1:p.Ile1563Met
XM_011522637.2:c.4686C>G	XP_011520939.1:p.Ile1562Met
XM_011522638.2:c.4851C>G	XP_011520940.2:p.Ile1617Met
XM_011522639.2:c.4560C>G	XP_011520941.1:p.Ile1520Met
XM_011522640.2:c.4557C>G	XP_011520942.1:p.Ile1519Met
XM_017023615.1:c.4632C>G	XP_016879104.1:p.Ile1544Met
XM_017023616.1:c.4503C>G	XP_016879105.1:p.Ile1501Met
XM_017023617.1:c.4599C>G	XP_016879106.1:p.Ile1533Met
XM_017023618.1:c.3345C>G	XP_016879107.1:p.Ile1115Met
XM_024450413.1:c.4434C>G	XP_024306181.1:p.Ile1478Met
NM_000548.5:c.4635C>G MANE Select	NP_000539.2:p.Ile1545Met
NM_001370404.1:c.4503C>G	NP_001357333.1:p.Ile1501Met
NM_001370405.1:c.4506C>G	NP_001357334.1:p.Ile1502Met
NM_001077183.3:c.4434C>G	NP_001070651.1:p.Ile1478Met
NM_001114382.3:c.4566C>G	NP_001107854.1:p.Ile1522Met
NM_001318827.2:c.4326C>G	NP_001305756.1:p.Ile1442Met
NM_001318829.2:c.4290C>G	NP_001305758.1:p.Ile1430Met
NM_001318831.2:c.3903C>G	NP_001305760.1:p.Ile1301Met
NM_001318832.2:c.4467C>G	NP_001305761.1:p.Ile1489Met
NM_001363528.2:c.4437C>G	NP_001350457.1:p.Ile1479Met
NM_021055.3:c.4506C>G	NP_066399.2:p.Ile1502Met