Canonical Allele Identifier: CA021087

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49326
• ClinVar RCV Id: RCV000042586 ; RCV000470698 ; RCV001091866
• dbSNP Id: rs45455296
• MyVariant Identifiers: chr16:g.2136377C>T (hg19) ; chr16:g.2086376C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086376C>T , CM000678.2:g.2086376C>T	GRCh38
NC_000016.9:g.2136377C>T , CM000678.1:g.2136377C>T	GRCh37
NC_000016.8:g.2076378C>T	NCBI36
NG_005895.1:g.42071C>T , LRG_487:g.42071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3195C>T	ENSP00000455997.2:n.*3195C>T
ENST00000642206.2:c.4693C>T	ENSP00000495146.2:p.Gln1565Ter
ENST00000642365.2:c.4843C>T	ENSP00000495459.2:p.Gln1615Ter
ENST00000644417.2:c.*5359C>T	ENSP00000493912.2:n.*5359C>T
ENST00000646464.2:c.*7595C>T	ENSP00000496610.2:n.*7595C>T
ENST00000219476.9:c.4846C>T MANE Select	ENSP00000219476.3:p.Gln1616Ter
ENST00000350773.9:c.4777C>T	ENSP00000344383.4:p.Gln1593Ter
ENST00000401874.7:c.4645C>T	ENSP00000384468.2:p.Gln1549Ter
ENST00000568454.6:c.4678C>T	ENSP00000454487.1:p.Gln1560Ter
ENST00000569110.2:c.1069C>T
ENST00000569930.2:n.2728C>T
ENST00000642365.1:c.3500C>T
ENST00000642561.1:c.4717C>T	ENSP00000495099.1:p.Gln1573Ter
ENST00000642728.1:n.1028C>T
ENST00000642791.1:n.443C>T
ENST00000642797.1:c.4648C>T	ENSP00000493846.1:p.Gln1550Ter
ENST00000642936.1:c.4714C>T	ENSP00000494514.1:p.Gln1572Ter
ENST00000643088.1:c.4639C>T	ENSP00000494747.1:p.Gln1547Ter
ENST00000643177.1:n.860C>T
ENST00000643426.1:n.2494C>T
ENST00000643946.1:c.4771C>T	ENSP00000495927.1:p.Gln1591Ter
ENST00000644043.1:c.4717C>T	ENSP00000496262.1:p.Gln1573Ter
ENST00000644278.1:n.328C>T
ENST00000644329.1:c.4645C>T	ENSP00000496611.1:p.Gln1549Ter
ENST00000644335.1:c.4642C>T	ENSP00000496317.1:p.Gln1548Ter
ENST00000644399.1:c.4767C>T
ENST00000645024.1:n.2930C>T
ENST00000646388.1:c.4840C>T	ENSP00000495921.1:p.Gln1614Ter
ENST00000646557.1:n.7C>T
ENST00000646634.1:n.3661C>T
ENST00000646674.1:n.2098C>T
ENST00000647042.1:n.2069C>T
ENST00000647180.1:n.1959C>T
ENST00000219476.7:c.4846C>T	ENSP00000219476.3:p.Gln1616Ter
ENST00000350773.8:c.4777C>T	ENSP00000344383.4:p.Gln1593Ter
ENST00000382538.10:c.4501C>T	ENSP00000371978.6:p.Gln1501Ter
ENST00000401874.6:c.4645C>T	ENSP00000384468.2:p.Gln1549Ter
ENST00000439117.6:c.*4013C>T	ENSP00000406980.2:n.*4013C>T
ENST00000439673.6:c.4537C>T	ENSP00000399232.2:p.Gln1513Ter
ENST00000497886.5:n.2604C>T
ENST00000568454.5:c.4678C>T	ENSP00000454487.1:p.Gln1560Ter
ENST00000569110.1:c.1028C>T
ENST00000569930.1:n.1961C>T
NM_000548.3:c.4846C>T , LRG_487t1:c.4846C>T	NP_000539.2:p.Gln1616Ter
NM_001077183.1:c.4645C>T	NP_001070651.1:p.Gln1549Ter
NM_001114382.1:c.4777C>T	NP_001107854.1:p.Gln1593Ter
XM_005255529.3:c.4717C>T	XP_005255586.2:p.Gln1573Ter
XM_005255531.3:c.4648C>T	XP_005255588.2:p.Gln1550Ter
XM_011522636.1:c.4900C>T	XP_011520938.1:p.Gln1634Ter
XM_011522637.1:c.4897C>T	XP_011520939.1:p.Gln1633Ter
XM_011522638.1:c.4789C>T	XP_011520940.1:p.Gln1597Ter
XM_011522639.1:c.4771C>T	XP_011520941.1:p.Gln1591Ter
XM_011522640.1:c.4768C>T	XP_011520942.1:p.Gln1590Ter
XM_011522641.1:c.4537C>T	XP_011520943.1:p.Gln1513Ter
NM_000548.4:c.4846C>T	NP_000539.2:p.Gln1616Ter
NM_001077183.2:c.4645C>T	NP_001070651.1:p.Gln1549Ter
NM_001114382.2:c.4777C>T	NP_001107854.1:p.Gln1593Ter
NM_001318827.1:c.4537C>T	NP_001305756.1:p.Gln1513Ter
NM_001318829.1:c.4501C>T	NP_001305758.1:p.Gln1501Ter
NM_001318831.1:c.4114C>T	NP_001305760.1:p.Gln1372Ter
NM_001318832.1:c.4678C>T	NP_001305761.1:p.Gln1560Ter
NM_001363528.1:c.4648C>T	NP_001350457.1:p.Gln1550Ter
NM_021055.2:c.4717C>T	NP_066399.2:p.Gln1573Ter
XM_005255531.4:c.4648C>T	XP_005255588.2:p.Gln1550Ter
XM_011522636.2:c.4900C>T	XP_011520938.1:p.Gln1634Ter
XM_011522637.2:c.4897C>T	XP_011520939.1:p.Gln1633Ter
XM_011522638.2:c.5062C>T	XP_011520940.2:p.Gln1688Ter
XM_011522639.2:c.4771C>T	XP_011520941.1:p.Gln1591Ter
XM_011522640.2:c.4768C>T	XP_011520942.1:p.Gln1590Ter
XM_017023615.1:c.4843C>T	XP_016879104.1:p.Gln1615Ter
XM_017023616.1:c.4714C>T	XP_016879105.1:p.Gln1572Ter
XM_017023617.1:c.4810C>T	XP_016879106.1:p.Gln1604Ter
XM_017023618.1:c.3556C>T	XP_016879107.1:p.Gln1186Ter
XM_024450413.1:c.4645C>T	XP_024306181.1:p.Gln1549Ter
NM_000548.5:c.4846C>T MANE Select	NP_000539.2:p.Gln1616Ter
NM_001370404.1:c.4714C>T	NP_001357333.1:p.Gln1572Ter
NM_001370405.1:c.4717C>T	NP_001357334.1:p.Gln1573Ter
NM_001077183.3:c.4645C>T	NP_001070651.1:p.Gln1549Ter
NM_001114382.3:c.4777C>T	NP_001107854.1:p.Gln1593Ter
NM_001318827.2:c.4537C>T	NP_001305756.1:p.Gln1513Ter
NM_001318829.2:c.4501C>T	NP_001305758.1:p.Gln1501Ter
NM_001318831.2:c.4114C>T	NP_001305760.1:p.Gln1372Ter
NM_001318832.2:c.4678C>T	NP_001305761.1:p.Gln1560Ter
NM_001363528.2:c.4648C>T	NP_001350457.1:p.Gln1550Ter
NM_021055.3:c.4717C>T	NP_066399.2:p.Gln1573Ter