Canonical Allele Identifier: CA394308217

Gene: TSC2

Linked Data

• ClinVar Variation Id: 468116
• ClinVar RCV Id: RCV000528404 ; RCV002330909
• dbSNP Id: rs1412545821
• gnomAD v3: 16-2086732-C-G
• gnomAD v4: 16-2086732-C-G
• MyVariant Identifiers: chr16:g.2136733C>G (hg19) ; chr16:g.2086732C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086732C>G , CM000678.2:g.2086732C>G	GRCh38
NC_000016.9:g.2136733C>G , CM000678.1:g.2136733C>G	GRCh37
NC_000016.8:g.2076734C>G	NCBI36
NG_005895.1:g.42427C>G , LRG_487:g.42427C>G
NG_008617.1:g.56489G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3199C>G	ENSP00000455997.2:n.*3199C>G
ENST00000642206.2:c.4697C>G	ENSP00000495146.2:p.Ala1566Gly
ENST00000642365.2:c.4847C>G	ENSP00000495459.2:p.Ala1616Gly
ENST00000644417.2:c.*5363C>G	ENSP00000493912.2:n.*5363C>G
ENST00000646464.2:c.*7599C>G	ENSP00000496610.2:n.*7599C>G
ENST00000219476.9:c.4850C>G MANE Select	ENSP00000219476.3:p.Ala1617Gly
ENST00000350773.9:c.4781C>G	ENSP00000344383.4:p.Ala1594Gly
ENST00000401874.7:c.4649C>G	ENSP00000384468.2:p.Ala1550Gly
ENST00000568454.6:c.4682C>G	ENSP00000454487.1:p.Ala1561Gly
ENST00000569110.2:c.1073C>G
ENST00000569930.2:n.2732C>G
ENST00000642365.1:c.3504C>G
ENST00000642561.1:c.4721C>G	ENSP00000495099.1:p.Ala1574Gly
ENST00000642728.1:n.1032C>G
ENST00000642791.1:n.447C>G
ENST00000642797.1:c.4652C>G	ENSP00000493846.1:p.Ala1551Gly
ENST00000642936.1:c.4718C>G	ENSP00000494514.1:p.Ala1573Gly
ENST00000643088.1:c.4643C>G	ENSP00000494747.1:p.Ala1548Gly
ENST00000643177.1:n.864C>G
ENST00000643426.1:n.2498C>G
ENST00000643946.1:c.4775C>G	ENSP00000495927.1:p.Ala1592Gly
ENST00000644043.1:c.4721C>G	ENSP00000496262.1:p.Ala1574Gly
ENST00000644278.1:n.332C>G
ENST00000644329.1:c.4649C>G	ENSP00000496611.1:p.Ala1550Gly
ENST00000644335.1:c.4646C>G	ENSP00000496317.1:p.Ala1549Gly
ENST00000644399.1:c.4771C>G
ENST00000645024.1:n.2934C>G
ENST00000646388.1:c.4844C>G	ENSP00000495921.1:p.Ala1615Gly
ENST00000646557.1:n.11C>G
ENST00000646634.1:n.3665C>G
ENST00000646674.1:n.2102C>G
ENST00000647042.1:n.2073C>G
ENST00000647180.1:n.1963C>G
ENST00000219476.7:c.4850C>G	ENSP00000219476.3:p.Ala1617Gly
ENST00000350773.8:c.4781C>G	ENSP00000344383.4:p.Ala1594Gly
ENST00000382538.10:c.4505C>G	ENSP00000371978.6:p.Ala1502Gly
ENST00000401874.6:c.4649C>G	ENSP00000384468.2:p.Ala1550Gly
ENST00000439117.6:c.*4017C>G	ENSP00000406980.2:n.*4017C>G
ENST00000439673.6:c.4541C>G	ENSP00000399232.2:p.Ala1514Gly
ENST00000497886.5:n.2608-35C>G
ENST00000568454.5:c.4682C>G	ENSP00000454487.1:p.Ala1561Gly
ENST00000569110.1:c.1032C>G
ENST00000569930.1:n.1965C>G
NM_000548.3:c.4850C>G , LRG_487t1:c.4850C>G	NP_000539.2:p.Ala1617Gly
NM_001077183.1:c.4649C>G	NP_001070651.1:p.Ala1550Gly
NM_001114382.1:c.4781C>G	NP_001107854.1:p.Ala1594Gly
XM_005255529.3:c.4721C>G	XP_005255586.2:p.Ala1574Gly
XM_005255531.3:c.4652C>G	XP_005255588.2:p.Ala1551Gly
XM_011522636.1:c.4904C>G	XP_011520938.1:p.Ala1635Gly
XM_011522637.1:c.4901C>G	XP_011520939.1:p.Ala1634Gly
XM_011522638.1:c.4793C>G	XP_011520940.1:p.Ala1598Gly
XM_011522639.1:c.4775C>G	XP_011520941.1:p.Ala1592Gly
XM_011522640.1:c.4772C>G	XP_011520942.1:p.Ala1591Gly
XM_011522641.1:c.4541C>G	XP_011520943.1:p.Ala1514Gly
NM_000548.4:c.4850C>G	NP_000539.2:p.Ala1617Gly
NM_001077183.2:c.4649C>G	NP_001070651.1:p.Ala1550Gly
NM_001114382.2:c.4781C>G	NP_001107854.1:p.Ala1594Gly
NM_001318827.1:c.4541C>G	NP_001305756.1:p.Ala1514Gly
NM_001318829.1:c.4505C>G	NP_001305758.1:p.Ala1502Gly
NM_001318831.1:c.4118C>G	NP_001305760.1:p.Ala1373Gly
NM_001318832.1:c.4682C>G	NP_001305761.1:p.Ala1561Gly
NM_001363528.1:c.4652C>G	NP_001350457.1:p.Ala1551Gly
NM_021055.2:c.4721C>G	NP_066399.2:p.Ala1574Gly
XM_005255531.4:c.4652C>G	XP_005255588.2:p.Ala1551Gly
XM_011522636.2:c.4904C>G	XP_011520938.1:p.Ala1635Gly
XM_011522637.2:c.4901C>G	XP_011520939.1:p.Ala1634Gly
XM_011522638.2:c.5066C>G	XP_011520940.2:p.Ala1689Gly
XM_011522639.2:c.4775C>G	XP_011520941.1:p.Ala1592Gly
XM_011522640.2:c.4772C>G	XP_011520942.1:p.Ala1591Gly
XM_017023615.1:c.4847C>G	XP_016879104.1:p.Ala1616Gly
XM_017023616.1:c.4718C>G	XP_016879105.1:p.Ala1573Gly
XM_017023617.1:c.4814C>G	XP_016879106.1:p.Ala1605Gly
XM_017023618.1:c.3560C>G	XP_016879107.1:p.Ala1187Gly
XM_024450413.1:c.4649C>G	XP_024306181.1:p.Ala1550Gly
NM_000548.5:c.4850C>G MANE Select	NP_000539.2:p.Ala1617Gly
NM_001370404.1:c.4718C>G	NP_001357333.1:p.Ala1573Gly
NM_001370405.1:c.4721C>G	NP_001357334.1:p.Ala1574Gly
NM_001077183.3:c.4649C>G	NP_001070651.1:p.Ala1550Gly
NM_001114382.3:c.4781C>G	NP_001107854.1:p.Ala1594Gly
NM_001318827.2:c.4541C>G	NP_001305756.1:p.Ala1514Gly
NM_001318829.2:c.4505C>G	NP_001305758.1:p.Ala1502Gly
NM_001318831.2:c.4118C>G	NP_001305760.1:p.Ala1373Gly
NM_001318832.2:c.4682C>G	NP_001305761.1:p.Ala1561Gly
NM_001363528.2:c.4652C>G	NP_001350457.1:p.Ala1551Gly
NM_021055.3:c.4721C>G	NP_066399.2:p.Ala1574Gly