Canonical Allele Identifier: CA394311729

Gene: TSC2

Linked Data

• ClinVar Variation Id: 535944
• ClinVar RCV Id: RCV000644178
• dbSNP Id: rs137854882
• MyVariant Identifiers: chr16:g.2137942G>A (hg19) ; chr16:g.2087941G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3417G>A	ENSP00000455997.2:n.*3417G>A
ENST00000642206.2:c.4915G>A	ENSP00000495146.2:p.Asp1639Asn
ENST00000642365.2:c.5065G>A	ENSP00000495459.2:p.Asp1689Asn
ENST00000644417.2:c.*5581G>A	ENSP00000493912.2:n.*5581G>A
ENST00000646464.2:c.*7817G>A	ENSP00000496610.2:n.*7817G>A
ENST00000219476.9:c.5068G>A MANE Select	ENSP00000219476.3:p.Asp1690Asn
ENST00000350773.9:c.4999G>A	ENSP00000344383.4:p.Asp1667Asn
ENST00000401874.7:c.4867G>A	ENSP00000384468.2:p.Asp1623Asn
ENST00000568454.6:c.4900G>A	ENSP00000454487.1:p.Asp1634Asn
ENST00000569110.2:c.1291G>A
ENST00000569930.2:n.2950G>A
ENST00000642365.1:c.3722G>A
ENST00000642561.1:c.4939G>A	ENSP00000495099.1:p.Asp1647Asn
ENST00000642791.1:n.665G>A
ENST00000642797.1:c.4870G>A	ENSP00000493846.1:p.Asp1624Asn
ENST00000642936.1:c.4936G>A	ENSP00000494514.1:p.Asp1646Asn
ENST00000643088.1:c.4861G>A	ENSP00000494747.1:p.Asp1621Asn
ENST00000643177.1:n.1082G>A
ENST00000643426.1:n.2716G>A
ENST00000643946.1:c.4993G>A	ENSP00000495927.1:p.Asp1665Asn
ENST00000644043.1:c.4939G>A	ENSP00000496262.1:p.Asp1647Asn
ENST00000644278.1:n.550G>A
ENST00000644329.1:c.4867G>A	ENSP00000496611.1:p.Asp1623Asn
ENST00000644335.1:c.4864G>A	ENSP00000496317.1:p.Asp1622Asn
ENST00000644399.1:c.4989G>A
ENST00000645024.1:n.3152G>A
ENST00000646388.1:c.5062G>A	ENSP00000495921.1:p.Asp1688Asn
ENST00000646634.1:n.3883G>A
ENST00000646674.1:n.2320G>A
ENST00000647042.1:n.2291G>A
ENST00000647180.1:n.2181G>A
ENST00000219476.7:c.5068G>A	ENSP00000219476.3:p.Asp1690Asn
ENST00000350773.8:c.4999G>A	ENSP00000344383.4:p.Asp1667Asn
ENST00000382538.10:c.4723G>A	ENSP00000371978.6:p.Asp1575Asn
ENST00000401874.6:c.4867G>A	ENSP00000384468.2:p.Asp1623Asn
ENST00000439117.6:c.*4235G>A	ENSP00000406980.2:n.*4235G>A
ENST00000439673.6:c.4759G>A	ENSP00000399232.2:p.Asp1587Asn
ENST00000497886.5:n.2791G>A
ENST00000568454.5:c.4900G>A	ENSP00000454487.1:p.Asp1634Asn
ENST00000569110.1:c.1250G>A
ENST00000569930.1:n.2183G>A
NM_000548.3:c.5068G>A , LRG_487t1:c.5068G>A	NP_000539.2:p.Asp1690Asn
NM_001077183.1:c.4867G>A	NP_001070651.1:p.Asp1623Asn
NM_001114382.1:c.4999G>A	NP_001107854.1:p.Asp1667Asn
XM_005255529.3:c.4939G>A	XP_005255586.2:p.Asp1647Asn
XM_005255531.3:c.4870G>A	XP_005255588.2:p.Asp1624Asn
XM_011522636.1:c.5122G>A	XP_011520938.1:p.Asp1708Asn
XM_011522637.1:c.5119G>A	XP_011520939.1:p.Asp1707Asn
XM_011522638.1:c.5011G>A	XP_011520940.1:p.Asp1671Asn
XM_011522639.1:c.4993G>A	XP_011520941.1:p.Asp1665Asn
XM_011522640.1:c.4990G>A	XP_011520942.1:p.Asp1664Asn
XM_011522641.1:c.4759G>A	XP_011520943.1:p.Asp1587Asn
NM_000548.4:c.5068G>A	NP_000539.2:p.Asp1690Asn
NM_001077183.2:c.4867G>A	NP_001070651.1:p.Asp1623Asn
NM_001114382.2:c.4999G>A	NP_001107854.1:p.Asp1667Asn
NM_001318827.1:c.4759G>A	NP_001305756.1:p.Asp1587Asn
NM_001318829.1:c.4723G>A	NP_001305758.1:p.Asp1575Asn
NM_001318831.1:c.4336G>A	NP_001305760.1:p.Asp1446Asn
NM_001318832.1:c.4900G>A	NP_001305761.1:p.Asp1634Asn
NM_001363528.1:c.4870G>A	NP_001350457.1:p.Asp1624Asn
NM_021055.2:c.4939G>A	NP_066399.2:p.Asp1647Asn
XM_005255531.4:c.4870G>A	XP_005255588.2:p.Asp1624Asn
XM_011522636.2:c.5122G>A	XP_011520938.1:p.Asp1708Asn
XM_011522637.2:c.5119G>A	XP_011520939.1:p.Asp1707Asn
XM_011522638.2:c.5284G>A	XP_011520940.2:p.Asp1762Asn
XM_011522639.2:c.4993G>A	XP_011520941.1:p.Asp1665Asn
XM_011522640.2:c.4990G>A	XP_011520942.1:p.Asp1664Asn
XM_017023615.1:c.5065G>A	XP_016879104.1:p.Asp1689Asn
XM_017023616.1:c.4936G>A	XP_016879105.1:p.Asp1646Asn
XM_017023617.1:c.5032G>A	XP_016879106.1:p.Asp1678Asn
XM_017023618.1:c.3778G>A	XP_016879107.1:p.Asp1260Asn
XM_024450413.1:c.4867G>A	XP_024306181.1:p.Asp1623Asn
NM_000548.5:c.5068G>A MANE Select	NP_000539.2:p.Asp1690Asn
NM_001370404.1:c.4936G>A	NP_001357333.1:p.Asp1646Asn
NM_001370405.1:c.4939G>A	NP_001357334.1:p.Asp1647Asn
NM_001077183.3:c.4867G>A	NP_001070651.1:p.Asp1623Asn
NM_001114382.3:c.4999G>A	NP_001107854.1:p.Asp1667Asn
NM_001318827.2:c.4759G>A	NP_001305756.1:p.Asp1587Asn
NM_001318829.2:c.4723G>A	NP_001305758.1:p.Asp1575Asn
NM_001318831.2:c.4336G>A	NP_001305760.1:p.Asp1446Asn
NM_001318832.2:c.4900G>A	NP_001305761.1:p.Asp1634Asn
NM_001363528.2:c.4870G>A	NP_001350457.1:p.Asp1624Asn
NM_021055.3:c.4939G>A	NP_066399.2:p.Asp1647Asn