Canonical Allele Identifier: CA16609418

Gene: TSC2

Linked Data

• ClinVar Variation Id: 397548
• ClinVar RCV Id: RCV000449506 ; RCV002502593
• dbSNP Id: rs1060499676
• MyVariant Identifiers: chr16:g.2138235C>G (hg19) ; chr16:g.2088234C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088234C>G , CM000678.2:g.2088234C>G	GRCh38
NC_000016.9:g.2138235C>G , CM000678.1:g.2138235C>G	GRCh37
NC_000016.8:g.2078236C>G	NCBI36
NG_005895.1:g.43929C>G , LRG_487:g.43929C>G
NG_008617.1:g.54987G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3517C>G	ENSP00000455997.2:n.*3517C>G
ENST00000642206.2:c.5015C>G	ENSP00000495146.2:p.Ser1672Ter
ENST00000642365.2:c.5165C>G	ENSP00000495459.2:p.Ser1722Ter
ENST00000644417.2:c.*5681C>G	ENSP00000493912.2:n.*5681C>G
ENST00000646464.2:c.*7917C>G	ENSP00000496610.2:n.*7917C>G
ENST00000219476.9:c.5168C>G MANE Select	ENSP00000219476.3:p.Ser1723Ter
ENST00000350773.9:c.5099C>G	ENSP00000344383.4:p.Ser1700Ter
ENST00000401874.7:c.4967C>G	ENSP00000384468.2:p.Ser1656Ter
ENST00000568454.6:c.5000C>G	ENSP00000454487.1:p.Ser1667Ter
ENST00000569110.2:c.1391C>G
ENST00000569930.2:n.3050C>G
ENST00000642365.1:c.3822C>G
ENST00000642561.1:c.5032-5C>G	ENSP00000495099.1:n.5032-5C>G
ENST00000642791.1:n.765C>G
ENST00000642797.1:c.4970C>G	ENSP00000493846.1:p.Ser1657Ter
ENST00000642936.1:c.5036C>G	ENSP00000494514.1:p.Ser1679Ter
ENST00000643088.1:c.4961C>G	ENSP00000494747.1:p.Ser1654Ter
ENST00000643426.1:n.2816C>G
ENST00000643946.1:c.5093C>G	ENSP00000495927.1:p.Ser1698Ter
ENST00000644043.1:c.5039C>G	ENSP00000496262.1:p.Ser1680Ter
ENST00000644329.1:c.5054C>G	ENSP00000496611.1:p.Ser1685Ter
ENST00000644335.1:c.4964C>G	ENSP00000496317.1:p.Ser1655Ter
ENST00000644399.1:c.5089C>G
ENST00000645024.1:n.3252C>G
ENST00000646388.1:c.5162C>G	ENSP00000495921.1:p.Ser1721Ter
ENST00000646634.1:n.3983C>G
ENST00000646674.1:n.2420C>G
ENST00000647042.1:n.2391C>G
ENST00000647180.1:n.2281C>G
ENST00000219476.7:c.5168C>G	ENSP00000219476.3:p.Ser1723Ter
ENST00000350773.8:c.5099C>G	ENSP00000344383.4:p.Ser1700Ter
ENST00000382538.10:c.4823C>G	ENSP00000371978.6:p.Ser1608Ter
ENST00000401874.6:c.4967C>G	ENSP00000384468.2:p.Ser1656Ter
ENST00000439117.6:c.*4335C>G	ENSP00000406980.2:n.*4335C>G
ENST00000439673.6:c.4859C>G	ENSP00000399232.2:p.Ser1620Ter
ENST00000497886.5:n.2891C>G
ENST00000568454.5:c.5000C>G	ENSP00000454487.1:p.Ser1667Ter
ENST00000569110.1:c.1350C>G
ENST00000569930.1:n.2283C>G
NM_000548.3:c.5168C>G , LRG_487t1:c.5168C>G	NP_000539.2:p.Ser1723Ter
NM_001077183.1:c.4967C>G	NP_001070651.1:p.Ser1656Ter
NM_001114382.1:c.5099C>G	NP_001107854.1:p.Ser1700Ter
XM_005255529.3:c.5039C>G	XP_005255586.2:p.Ser1680Ter
XM_005255531.3:c.4970C>G	XP_005255588.2:p.Ser1657Ter
XM_011522636.1:c.5222C>G	XP_011520938.1:p.Ser1741Ter
XM_011522637.1:c.5219C>G	XP_011520939.1:p.Ser1740Ter
XM_011522638.1:c.5111C>G	XP_011520940.1:p.Ser1704Ter
XM_011522639.1:c.5093C>G	XP_011520941.1:p.Ser1698Ter
XM_011522640.1:c.5090C>G	XP_011520942.1:p.Ser1697Ter
XM_011522641.1:c.4859C>G	XP_011520943.1:p.Ser1620Ter
NM_000548.4:c.5168C>G	NP_000539.2:p.Ser1723Ter
NM_001077183.2:c.4967C>G	NP_001070651.1:p.Ser1656Ter
NM_001114382.2:c.5099C>G	NP_001107854.1:p.Ser1700Ter
NM_001318827.1:c.4859C>G	NP_001305756.1:p.Ser1620Ter
NM_001318829.1:c.4823C>G	NP_001305758.1:p.Ser1608Ter
NM_001318831.1:c.4436C>G	NP_001305760.1:p.Ser1479Ter
NM_001318832.1:c.5000C>G	NP_001305761.1:p.Ser1667Ter
NM_001363528.1:c.4970C>G	NP_001350457.1:p.Ser1657Ter
NM_021055.2:c.5039C>G	NP_066399.2:p.Ser1680Ter
XM_005255531.4:c.4970C>G	XP_005255588.2:p.Ser1657Ter
XM_011522636.2:c.5222C>G	XP_011520938.1:p.Ser1741Ter
XM_011522637.2:c.5219C>G	XP_011520939.1:p.Ser1740Ter
XM_011522638.2:c.5384C>G	XP_011520940.2:p.Ser1795Ter
XM_011522639.2:c.5093C>G	XP_011520941.1:p.Ser1698Ter
XM_011522640.2:c.5090C>G	XP_011520942.1:p.Ser1697Ter
XM_017023615.1:c.5165C>G	XP_016879104.1:p.Ser1722Ter
XM_017023616.1:c.5036C>G	XP_016879105.1:p.Ser1679Ter
XM_017023617.1:c.5132C>G	XP_016879106.1:p.Ser1711Ter
XM_017023618.1:c.3878C>G	XP_016879107.1:p.Ser1293Ter
XM_024450413.1:c.5054C>G	XP_024306181.1:p.Ser1685Ter
NM_000548.5:c.5168C>G MANE Select	NP_000539.2:p.Ser1723Ter
NM_001370404.1:c.5036C>G	NP_001357333.1:p.Ser1679Ter
NM_001370405.1:c.5032-5C>G	NP_001357334.1:n.5032-5C>G
NM_001077183.3:c.4967C>G	NP_001070651.1:p.Ser1656Ter
NM_001114382.3:c.5099C>G	NP_001107854.1:p.Ser1700Ter
NM_001318827.2:c.4859C>G	NP_001305756.1:p.Ser1620Ter
NM_001318829.2:c.4823C>G	NP_001305758.1:p.Ser1608Ter
NM_001318831.2:c.4436C>G	NP_001305760.1:p.Ser1479Ter
NM_001318832.2:c.5000C>G	NP_001305761.1:p.Ser1667Ter
NM_001363528.2:c.4970C>G	NP_001350457.1:p.Ser1657Ter
NM_021055.3:c.5039C>G	NP_066399.2:p.Ser1680Ter