Canonical Allele Identifier: CA021383

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49335
• ClinVar RCV Id: RCV000042595 ; RCV000359328 ; RCV000543686 ; RCV002336159
• dbSNP Id: rs45517382
• COSMIC: COSM87856
• MyVariant Identifiers: chr16:g.2136835A>G (hg19) ; chr16:g.2086834A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086834A>G , CM000678.2:g.2086834A>G	GRCh38
NC_000016.9:g.2136835A>G , CM000678.1:g.2136835A>G	GRCh37
NC_000016.8:g.2076836A>G	NCBI36
NG_005895.1:g.42529A>G , LRG_487:g.42529A>G
NG_008617.1:g.56387T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3301A>G	ENSP00000455997.2:n.*3301A>G
ENST00000642206.2:c.4799A>G	ENSP00000495146.2:p.Asn1600Ser
ENST00000642365.2:c.4949A>G	ENSP00000495459.2:p.Asn1650Ser
ENST00000644417.2:c.*5465A>G	ENSP00000493912.2:n.*5465A>G
ENST00000646464.2:c.*7701A>G	ENSP00000496610.2:n.*7701A>G
ENST00000219476.9:c.4952A>G MANE Select	ENSP00000219476.3:p.Asn1651Ser
ENST00000350773.9:c.4883A>G	ENSP00000344383.4:p.Asn1628Ser
ENST00000401874.7:c.4751A>G	ENSP00000384468.2:p.Asn1584Ser
ENST00000568454.6:c.4784A>G	ENSP00000454487.1:p.Asn1595Ser
ENST00000569110.2:c.1175A>G
ENST00000569930.2:n.2834A>G
ENST00000642365.1:c.3606A>G
ENST00000642561.1:c.4823A>G	ENSP00000495099.1:p.Asn1608Ser
ENST00000642728.1:n.1134A>G
ENST00000642791.1:n.549A>G
ENST00000642797.1:c.4754A>G	ENSP00000493846.1:p.Asn1585Ser
ENST00000642936.1:c.4820A>G	ENSP00000494514.1:p.Asn1607Ser
ENST00000643088.1:c.4745A>G	ENSP00000494747.1:p.Asn1582Ser
ENST00000643177.1:n.966A>G
ENST00000643426.1:n.2600A>G
ENST00000643946.1:c.4877A>G	ENSP00000495927.1:p.Asn1626Ser
ENST00000644043.1:c.4823A>G	ENSP00000496262.1:p.Asn1608Ser
ENST00000644278.1:n.434A>G
ENST00000644329.1:c.4751A>G	ENSP00000496611.1:p.Asn1584Ser
ENST00000644335.1:c.4748A>G	ENSP00000496317.1:p.Asn1583Ser
ENST00000644399.1:c.4873A>G
ENST00000645024.1:n.3036A>G
ENST00000646388.1:c.4946A>G	ENSP00000495921.1:p.Asn1649Ser
ENST00000646557.1:n.113A>G
ENST00000646634.1:n.3767A>G
ENST00000646674.1:n.2204A>G
ENST00000647042.1:n.2175A>G
ENST00000647180.1:n.2065A>G
ENST00000219476.7:c.4952A>G	ENSP00000219476.3:p.Asn1651Ser
ENST00000350773.8:c.4883A>G	ENSP00000344383.4:p.Asn1628Ser
ENST00000382538.10:c.4607A>G	ENSP00000371978.6:p.Asn1536Ser
ENST00000401874.6:c.4751A>G	ENSP00000384468.2:p.Asn1584Ser
ENST00000439117.6:c.*4119A>G	ENSP00000406980.2:n.*4119A>G
ENST00000439673.6:c.4643A>G	ENSP00000399232.2:p.Asn1548Ser
ENST00000497886.5:n.2675A>G
ENST00000568454.5:c.4784A>G	ENSP00000454487.1:p.Asn1595Ser
ENST00000569110.1:c.1134A>G
ENST00000569930.1:n.2067A>G
NM_000548.3:c.4952A>G , LRG_487t1:c.4952A>G	NP_000539.2:p.Asn1651Ser
NM_001077183.1:c.4751A>G	NP_001070651.1:p.Asn1584Ser
NM_001114382.1:c.4883A>G	NP_001107854.1:p.Asn1628Ser
XM_005255529.3:c.4823A>G	XP_005255586.2:p.Asn1608Ser
XM_005255531.3:c.4754A>G	XP_005255588.2:p.Asn1585Ser
XM_011522636.1:c.5006A>G	XP_011520938.1:p.Asn1669Ser
XM_011522637.1:c.5003A>G	XP_011520939.1:p.Asn1668Ser
XM_011522638.1:c.4895A>G	XP_011520940.1:p.Asn1632Ser
XM_011522639.1:c.4877A>G	XP_011520941.1:p.Asn1626Ser
XM_011522640.1:c.4874A>G	XP_011520942.1:p.Asn1625Ser
XM_011522641.1:c.4643A>G	XP_011520943.1:p.Asn1548Ser
NM_000548.4:c.4952A>G	NP_000539.2:p.Asn1651Ser
NM_001077183.2:c.4751A>G	NP_001070651.1:p.Asn1584Ser
NM_001114382.2:c.4883A>G	NP_001107854.1:p.Asn1628Ser
NM_001318827.1:c.4643A>G	NP_001305756.1:p.Asn1548Ser
NM_001318829.1:c.4607A>G	NP_001305758.1:p.Asn1536Ser
NM_001318831.1:c.4220A>G	NP_001305760.1:p.Asn1407Ser
NM_001318832.1:c.4784A>G	NP_001305761.1:p.Asn1595Ser
NM_001363528.1:c.4754A>G	NP_001350457.1:p.Asn1585Ser
NM_021055.2:c.4823A>G	NP_066399.2:p.Asn1608Ser
XM_005255531.4:c.4754A>G	XP_005255588.2:p.Asn1585Ser
XM_011522636.2:c.5006A>G	XP_011520938.1:p.Asn1669Ser
XM_011522637.2:c.5003A>G	XP_011520939.1:p.Asn1668Ser
XM_011522638.2:c.5168A>G	XP_011520940.2:p.Asn1723Ser
XM_011522639.2:c.4877A>G	XP_011520941.1:p.Asn1626Ser
XM_011522640.2:c.4874A>G	XP_011520942.1:p.Asn1625Ser
XM_017023615.1:c.4949A>G	XP_016879104.1:p.Asn1650Ser
XM_017023616.1:c.4820A>G	XP_016879105.1:p.Asn1607Ser
XM_017023617.1:c.4916A>G	XP_016879106.1:p.Asn1639Ser
XM_017023618.1:c.3662A>G	XP_016879107.1:p.Asn1221Ser
XM_024450413.1:c.4751A>G	XP_024306181.1:p.Asn1584Ser
NM_000548.5:c.4952A>G MANE Select	NP_000539.2:p.Asn1651Ser
NM_001370404.1:c.4820A>G	NP_001357333.1:p.Asn1607Ser
NM_001370405.1:c.4823A>G	NP_001357334.1:p.Asn1608Ser
NM_001077183.3:c.4751A>G	NP_001070651.1:p.Asn1584Ser
NM_001114382.3:c.4883A>G	NP_001107854.1:p.Asn1628Ser
NM_001318827.2:c.4643A>G	NP_001305756.1:p.Asn1548Ser
NM_001318829.2:c.4607A>G	NP_001305758.1:p.Asn1536Ser
NM_001318831.2:c.4220A>G	NP_001305760.1:p.Asn1407Ser
NM_001318832.2:c.4784A>G	NP_001305761.1:p.Asn1595Ser
NM_001363528.2:c.4754A>G	NP_001350457.1:p.Asn1585Ser
NM_021055.3:c.4823A>G	NP_066399.2:p.Asn1608Ser