Canonical Allele Identifier: CA021591

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49440
• ClinVar RCV Id: RCV000042700 ; RCV000713942 ; RCV003326118
• dbSNP Id: rs45517388
• MyVariant Identifiers: chr16:g.2137930C>T (hg19) ; chr16:g.2087929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2087929C>T , CM000678.2:g.2087929C>T	GRCh38
NC_000016.9:g.2137930C>T , CM000678.1:g.2137930C>T	GRCh37
NC_000016.8:g.2077931C>T	NCBI36
NG_005895.1:g.43624C>T , LRG_487:g.43624C>T
NG_008617.1:g.55292G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3405C>T	ENSP00000455997.2:n.*3405C>T
ENST00000642206.2:c.4903C>T	ENSP00000495146.2:p.Gln1635Ter
ENST00000642365.2:c.5053C>T	ENSP00000495459.2:p.Gln1685Ter
ENST00000644417.2:c.*5569C>T	ENSP00000493912.2:n.*5569C>T
ENST00000646464.2:c.*7805C>T	ENSP00000496610.2:n.*7805C>T
ENST00000219476.9:c.5056C>T MANE Select	ENSP00000219476.3:p.Gln1686Ter
ENST00000350773.9:c.4987C>T	ENSP00000344383.4:p.Gln1663Ter
ENST00000401874.7:c.4855C>T	ENSP00000384468.2:p.Gln1619Ter
ENST00000568454.6:c.4888C>T	ENSP00000454487.1:p.Gln1630Ter
ENST00000569110.2:c.1279C>T
ENST00000569930.2:n.2938C>T
ENST00000642365.1:c.3710C>T
ENST00000642561.1:c.4927C>T	ENSP00000495099.1:p.Gln1643Ter
ENST00000642791.1:n.653C>T
ENST00000642797.1:c.4858C>T	ENSP00000493846.1:p.Gln1620Ter
ENST00000642936.1:c.4924C>T	ENSP00000494514.1:p.Gln1642Ter
ENST00000643088.1:c.4849C>T	ENSP00000494747.1:p.Gln1617Ter
ENST00000643177.1:n.1070C>T
ENST00000643426.1:n.2704C>T
ENST00000643946.1:c.4981C>T	ENSP00000495927.1:p.Gln1661Ter
ENST00000644043.1:c.4927C>T	ENSP00000496262.1:p.Gln1643Ter
ENST00000644278.1:n.538C>T
ENST00000644329.1:c.4855C>T	ENSP00000496611.1:p.Gln1619Ter
ENST00000644335.1:c.4852C>T	ENSP00000496317.1:p.Gln1618Ter
ENST00000644399.1:c.4977C>T
ENST00000645024.1:n.3140C>T
ENST00000646388.1:c.5050C>T	ENSP00000495921.1:p.Gln1684Ter
ENST00000646634.1:n.3871C>T
ENST00000646674.1:n.2308C>T
ENST00000647042.1:n.2279C>T
ENST00000647180.1:n.2169C>T
ENST00000219476.7:c.5056C>T	ENSP00000219476.3:p.Gln1686Ter
ENST00000350773.8:c.4987C>T	ENSP00000344383.4:p.Gln1663Ter
ENST00000382538.10:c.4711C>T	ENSP00000371978.6:p.Gln1571Ter
ENST00000401874.6:c.4855C>T	ENSP00000384468.2:p.Gln1619Ter
ENST00000439117.6:c.*4223C>T	ENSP00000406980.2:n.*4223C>T
ENST00000439673.6:c.4747C>T	ENSP00000399232.2:p.Gln1583Ter
ENST00000497886.5:n.2779C>T
ENST00000568454.5:c.4888C>T	ENSP00000454487.1:p.Gln1630Ter
ENST00000569110.1:c.1238C>T
ENST00000569930.1:n.2171C>T
NM_000548.3:c.5056C>T , LRG_487t1:c.5056C>T	NP_000539.2:p.Gln1686Ter
NM_001077183.1:c.4855C>T	NP_001070651.1:p.Gln1619Ter
NM_001114382.1:c.4987C>T	NP_001107854.1:p.Gln1663Ter
XM_005255529.3:c.4927C>T	XP_005255586.2:p.Gln1643Ter
XM_005255531.3:c.4858C>T	XP_005255588.2:p.Gln1620Ter
XM_011522636.1:c.5110C>T	XP_011520938.1:p.Gln1704Ter
XM_011522637.1:c.5107C>T	XP_011520939.1:p.Gln1703Ter
XM_011522638.1:c.4999C>T	XP_011520940.1:p.Gln1667Ter
XM_011522639.1:c.4981C>T	XP_011520941.1:p.Gln1661Ter
XM_011522640.1:c.4978C>T	XP_011520942.1:p.Gln1660Ter
XM_011522641.1:c.4747C>T	XP_011520943.1:p.Gln1583Ter
NM_000548.4:c.5056C>T	NP_000539.2:p.Gln1686Ter
NM_001077183.2:c.4855C>T	NP_001070651.1:p.Gln1619Ter
NM_001114382.2:c.4987C>T	NP_001107854.1:p.Gln1663Ter
NM_001318827.1:c.4747C>T	NP_001305756.1:p.Gln1583Ter
NM_001318829.1:c.4711C>T	NP_001305758.1:p.Gln1571Ter
NM_001318831.1:c.4324C>T	NP_001305760.1:p.Gln1442Ter
NM_001318832.1:c.4888C>T	NP_001305761.1:p.Gln1630Ter
NM_001363528.1:c.4858C>T	NP_001350457.1:p.Gln1620Ter
NM_021055.2:c.4927C>T	NP_066399.2:p.Gln1643Ter
XM_005255531.4:c.4858C>T	XP_005255588.2:p.Gln1620Ter
XM_011522636.2:c.5110C>T	XP_011520938.1:p.Gln1704Ter
XM_011522637.2:c.5107C>T	XP_011520939.1:p.Gln1703Ter
XM_011522638.2:c.5272C>T	XP_011520940.2:p.Gln1758Ter
XM_011522639.2:c.4981C>T	XP_011520941.1:p.Gln1661Ter
XM_011522640.2:c.4978C>T	XP_011520942.1:p.Gln1660Ter
XM_017023615.1:c.5053C>T	XP_016879104.1:p.Gln1685Ter
XM_017023616.1:c.4924C>T	XP_016879105.1:p.Gln1642Ter
XM_017023617.1:c.5020C>T	XP_016879106.1:p.Gln1674Ter
XM_017023618.1:c.3766C>T	XP_016879107.1:p.Gln1256Ter
XM_024450413.1:c.4855C>T	XP_024306181.1:p.Gln1619Ter
NM_000548.5:c.5056C>T MANE Select	NP_000539.2:p.Gln1686Ter
NM_001370404.1:c.4924C>T	NP_001357333.1:p.Gln1642Ter
NM_001370405.1:c.4927C>T	NP_001357334.1:p.Gln1643Ter
NM_001077183.3:c.4855C>T	NP_001070651.1:p.Gln1619Ter
NM_001114382.3:c.4987C>T	NP_001107854.1:p.Gln1663Ter
NM_001318827.2:c.4747C>T	NP_001305756.1:p.Gln1583Ter
NM_001318829.2:c.4711C>T	NP_001305758.1:p.Gln1571Ter
NM_001318831.2:c.4324C>T	NP_001305760.1:p.Gln1442Ter
NM_001318832.2:c.4888C>T	NP_001305761.1:p.Gln1630Ter
NM_001363528.2:c.4858C>T	NP_001350457.1:p.Gln1620Ter
NM_021055.3:c.4927C>T	NP_066399.2:p.Gln1643Ter