Canonical Allele Identifier: CA021629

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49443
• ClinVar RCV Id: RCV000042703 ; RCV003626600
• dbSNP Id: rs137854882
• MyVariant Identifiers: chr16:g.2137942G>C (hg19) ; chr16:g.2087941G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2087941G>C , CM000678.2:g.2087941G>C	GRCh38
NC_000016.9:g.2137942G>C , CM000678.1:g.2137942G>C	GRCh37
NC_000016.8:g.2077943G>C	NCBI36
NG_005895.1:g.43636G>C , LRG_487:g.43636G>C
NG_008617.1:g.55280C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3417G>C	ENSP00000455997.2:n.*3417G>C
ENST00000642206.2:c.4915G>C	ENSP00000495146.2:p.Asp1639His
ENST00000642365.2:c.5065G>C	ENSP00000495459.2:p.Asp1689His
ENST00000644417.2:c.*5581G>C	ENSP00000493912.2:n.*5581G>C
ENST00000646464.2:c.*7817G>C	ENSP00000496610.2:n.*7817G>C
ENST00000219476.9:c.5068G>C MANE Select	ENSP00000219476.3:p.Asp1690His
ENST00000350773.9:c.4999G>C	ENSP00000344383.4:p.Asp1667His
ENST00000401874.7:c.4867G>C	ENSP00000384468.2:p.Asp1623His
ENST00000568454.6:c.4900G>C	ENSP00000454487.1:p.Asp1634His
ENST00000569110.2:c.1291G>C
ENST00000569930.2:n.2950G>C
ENST00000642365.1:c.3722G>C
ENST00000642561.1:c.4939G>C	ENSP00000495099.1:p.Asp1647His
ENST00000642791.1:n.665G>C
ENST00000642797.1:c.4870G>C	ENSP00000493846.1:p.Asp1624His
ENST00000642936.1:c.4936G>C	ENSP00000494514.1:p.Asp1646His
ENST00000643088.1:c.4861G>C	ENSP00000494747.1:p.Asp1621His
ENST00000643177.1:n.1082G>C
ENST00000643426.1:n.2716G>C
ENST00000643946.1:c.4993G>C	ENSP00000495927.1:p.Asp1665His
ENST00000644043.1:c.4939G>C	ENSP00000496262.1:p.Asp1647His
ENST00000644278.1:n.550G>C
ENST00000644329.1:c.4867G>C	ENSP00000496611.1:p.Asp1623His
ENST00000644335.1:c.4864G>C	ENSP00000496317.1:p.Asp1622His
ENST00000644399.1:c.4989G>C
ENST00000645024.1:n.3152G>C
ENST00000646388.1:c.5062G>C	ENSP00000495921.1:p.Asp1688His
ENST00000646634.1:n.3883G>C
ENST00000646674.1:n.2320G>C
ENST00000647042.1:n.2291G>C
ENST00000647180.1:n.2181G>C
ENST00000219476.7:c.5068G>C	ENSP00000219476.3:p.Asp1690His
ENST00000350773.8:c.4999G>C	ENSP00000344383.4:p.Asp1667His
ENST00000382538.10:c.4723G>C	ENSP00000371978.6:p.Asp1575His
ENST00000401874.6:c.4867G>C	ENSP00000384468.2:p.Asp1623His
ENST00000439117.6:c.*4235G>C	ENSP00000406980.2:n.*4235G>C
ENST00000439673.6:c.4759G>C	ENSP00000399232.2:p.Asp1587His
ENST00000497886.5:n.2791G>C
ENST00000568454.5:c.4900G>C	ENSP00000454487.1:p.Asp1634His
ENST00000569110.1:c.1250G>C
ENST00000569930.1:n.2183G>C
NM_000548.3:c.5068G>C , LRG_487t1:c.5068G>C	NP_000539.2:p.Asp1690His
NM_001077183.1:c.4867G>C	NP_001070651.1:p.Asp1623His
NM_001114382.1:c.4999G>C	NP_001107854.1:p.Asp1667His
XM_005255529.3:c.4939G>C	XP_005255586.2:p.Asp1647His
XM_005255531.3:c.4870G>C	XP_005255588.2:p.Asp1624His
XM_011522636.1:c.5122G>C	XP_011520938.1:p.Asp1708His
XM_011522637.1:c.5119G>C	XP_011520939.1:p.Asp1707His
XM_011522638.1:c.5011G>C	XP_011520940.1:p.Asp1671His
XM_011522639.1:c.4993G>C	XP_011520941.1:p.Asp1665His
XM_011522640.1:c.4990G>C	XP_011520942.1:p.Asp1664His
XM_011522641.1:c.4759G>C	XP_011520943.1:p.Asp1587His
NM_000548.4:c.5068G>C	NP_000539.2:p.Asp1690His
NM_001077183.2:c.4867G>C	NP_001070651.1:p.Asp1623His
NM_001114382.2:c.4999G>C	NP_001107854.1:p.Asp1667His
NM_001318827.1:c.4759G>C	NP_001305756.1:p.Asp1587His
NM_001318829.1:c.4723G>C	NP_001305758.1:p.Asp1575His
NM_001318831.1:c.4336G>C	NP_001305760.1:p.Asp1446His
NM_001318832.1:c.4900G>C	NP_001305761.1:p.Asp1634His
NM_001363528.1:c.4870G>C	NP_001350457.1:p.Asp1624His
NM_021055.2:c.4939G>C	NP_066399.2:p.Asp1647His
XM_005255531.4:c.4870G>C	XP_005255588.2:p.Asp1624His
XM_011522636.2:c.5122G>C	XP_011520938.1:p.Asp1708His
XM_011522637.2:c.5119G>C	XP_011520939.1:p.Asp1707His
XM_011522638.2:c.5284G>C	XP_011520940.2:p.Asp1762His
XM_011522639.2:c.4993G>C	XP_011520941.1:p.Asp1665His
XM_011522640.2:c.4990G>C	XP_011520942.1:p.Asp1664His
XM_017023615.1:c.5065G>C	XP_016879104.1:p.Asp1689His
XM_017023616.1:c.4936G>C	XP_016879105.1:p.Asp1646His
XM_017023617.1:c.5032G>C	XP_016879106.1:p.Asp1678His
XM_017023618.1:c.3778G>C	XP_016879107.1:p.Asp1260His
XM_024450413.1:c.4867G>C	XP_024306181.1:p.Asp1623His
NM_000548.5:c.5068G>C MANE Select	NP_000539.2:p.Asp1690His
NM_001370404.1:c.4936G>C	NP_001357333.1:p.Asp1646His
NM_001370405.1:c.4939G>C	NP_001357334.1:p.Asp1647His
NM_001077183.3:c.4867G>C	NP_001070651.1:p.Asp1623His
NM_001114382.3:c.4999G>C	NP_001107854.1:p.Asp1667His
NM_001318827.2:c.4759G>C	NP_001305756.1:p.Asp1587His
NM_001318829.2:c.4723G>C	NP_001305758.1:p.Asp1575His
NM_001318831.2:c.4336G>C	NP_001305760.1:p.Asp1446His
NM_001318832.2:c.4900G>C	NP_001305761.1:p.Asp1634His
NM_001363528.2:c.4870G>C	NP_001350457.1:p.Asp1624His
NM_021055.3:c.4939G>C	NP_066399.2:p.Asp1647His