Canonical Allele Identifier: CA394311256

Gene: TSC2

Linked Data

• ClinVar Variation Id: 535873
• ClinVar RCV Id: RCV000644091 ; RCV000984876
• dbSNP Id: rs45483392
• MyVariant Identifiers: chr16:g.2137898C>A (hg19) ; chr16:g.2087897C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2087897C>A , CM000678.2:g.2087897C>A	GRCh38
NC_000016.9:g.2137898C>A , CM000678.1:g.2137898C>A	GRCh37
NC_000016.8:g.2077899C>A	NCBI36
NG_005895.1:g.43592C>A , LRG_487:g.43592C>A
NG_008617.1:g.55324G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3373C>A	ENSP00000455997.2:n.*3373C>A
ENST00000642206.2:c.4871C>A	ENSP00000495146.2:p.Pro1624Gln
ENST00000642365.2:c.5021C>A	ENSP00000495459.2:p.Pro1674Gln
ENST00000644417.2:c.*5537C>A	ENSP00000493912.2:n.*5537C>A
ENST00000646464.2:c.*7773C>A	ENSP00000496610.2:n.*7773C>A
ENST00000219476.9:c.5024C>A MANE Select	ENSP00000219476.3:p.Pro1675Gln
ENST00000350773.9:c.4955C>A	ENSP00000344383.4:p.Pro1652Gln
ENST00000401874.7:c.4823C>A	ENSP00000384468.2:p.Pro1608Gln
ENST00000568454.6:c.4856C>A	ENSP00000454487.1:p.Pro1619Gln
ENST00000569110.2:c.1247C>A
ENST00000569930.2:n.2906C>A
ENST00000642365.1:c.3678C>A
ENST00000642561.1:c.4895C>A	ENSP00000495099.1:p.Pro1632Gln
ENST00000642791.1:n.621C>A
ENST00000642797.1:c.4826C>A	ENSP00000493846.1:p.Pro1609Gln
ENST00000642936.1:c.4892C>A	ENSP00000494514.1:p.Pro1631Gln
ENST00000643088.1:c.4817C>A	ENSP00000494747.1:p.Pro1606Gln
ENST00000643177.1:n.1038C>A
ENST00000643426.1:n.2672C>A
ENST00000643946.1:c.4949C>A	ENSP00000495927.1:p.Pro1650Gln
ENST00000644043.1:c.4895C>A	ENSP00000496262.1:p.Pro1632Gln
ENST00000644278.1:n.506C>A
ENST00000644329.1:c.4823C>A	ENSP00000496611.1:p.Pro1608Gln
ENST00000644335.1:c.4820C>A	ENSP00000496317.1:p.Pro1607Gln
ENST00000644399.1:c.4945C>A
ENST00000645024.1:n.3108C>A
ENST00000646388.1:c.5018C>A	ENSP00000495921.1:p.Pro1673Gln
ENST00000646634.1:n.3839C>A
ENST00000646674.1:n.2276C>A
ENST00000647042.1:n.2247C>A
ENST00000647180.1:n.2137C>A
ENST00000219476.7:c.5024C>A	ENSP00000219476.3:p.Pro1675Gln
ENST00000350773.8:c.4955C>A	ENSP00000344383.4:p.Pro1652Gln
ENST00000382538.10:c.4679C>A	ENSP00000371978.6:p.Pro1560Gln
ENST00000401874.6:c.4823C>A	ENSP00000384468.2:p.Pro1608Gln
ENST00000439117.6:c.*4191C>A	ENSP00000406980.2:n.*4191C>A
ENST00000439673.6:c.4715C>A	ENSP00000399232.2:p.Pro1572Gln
ENST00000497886.5:n.2747C>A
ENST00000568454.5:c.4856C>A	ENSP00000454487.1:p.Pro1619Gln
ENST00000569110.1:c.1206C>A
ENST00000569930.1:n.2139C>A
NM_000548.3:c.5024C>A , LRG_487t1:c.5024C>A	NP_000539.2:p.Pro1675Gln
NM_001077183.1:c.4823C>A	NP_001070651.1:p.Pro1608Gln
NM_001114382.1:c.4955C>A	NP_001107854.1:p.Pro1652Gln
XM_005255529.3:c.4895C>A	XP_005255586.2:p.Pro1632Gln
XM_005255531.3:c.4826C>A	XP_005255588.2:p.Pro1609Gln
XM_011522636.1:c.5078C>A	XP_011520938.1:p.Pro1693Gln
XM_011522637.1:c.5075C>A	XP_011520939.1:p.Pro1692Gln
XM_011522638.1:c.4967C>A	XP_011520940.1:p.Pro1656Gln
XM_011522639.1:c.4949C>A	XP_011520941.1:p.Pro1650Gln
XM_011522640.1:c.4946C>A	XP_011520942.1:p.Pro1649Gln
XM_011522641.1:c.4715C>A	XP_011520943.1:p.Pro1572Gln
NM_000548.4:c.5024C>A	NP_000539.2:p.Pro1675Gln
NM_001077183.2:c.4823C>A	NP_001070651.1:p.Pro1608Gln
NM_001114382.2:c.4955C>A	NP_001107854.1:p.Pro1652Gln
NM_001318827.1:c.4715C>A	NP_001305756.1:p.Pro1572Gln
NM_001318829.1:c.4679C>A	NP_001305758.1:p.Pro1560Gln
NM_001318831.1:c.4292C>A	NP_001305760.1:p.Pro1431Gln
NM_001318832.1:c.4856C>A	NP_001305761.1:p.Pro1619Gln
NM_001363528.1:c.4826C>A	NP_001350457.1:p.Pro1609Gln
NM_021055.2:c.4895C>A	NP_066399.2:p.Pro1632Gln
XM_005255531.4:c.4826C>A	XP_005255588.2:p.Pro1609Gln
XM_011522636.2:c.5078C>A	XP_011520938.1:p.Pro1693Gln
XM_011522637.2:c.5075C>A	XP_011520939.1:p.Pro1692Gln
XM_011522638.2:c.5240C>A	XP_011520940.2:p.Pro1747Gln
XM_011522639.2:c.4949C>A	XP_011520941.1:p.Pro1650Gln
XM_011522640.2:c.4946C>A	XP_011520942.1:p.Pro1649Gln
XM_017023615.1:c.5021C>A	XP_016879104.1:p.Pro1674Gln
XM_017023616.1:c.4892C>A	XP_016879105.1:p.Pro1631Gln
XM_017023617.1:c.4988C>A	XP_016879106.1:p.Pro1663Gln
XM_017023618.1:c.3734C>A	XP_016879107.1:p.Pro1245Gln
XM_024450413.1:c.4823C>A	XP_024306181.1:p.Pro1608Gln
NM_000548.5:c.5024C>A MANE Select	NP_000539.2:p.Pro1675Gln
NM_001370404.1:c.4892C>A	NP_001357333.1:p.Pro1631Gln
NM_001370405.1:c.4895C>A	NP_001357334.1:p.Pro1632Gln
NM_001077183.3:c.4823C>A	NP_001070651.1:p.Pro1608Gln
NM_001114382.3:c.4955C>A	NP_001107854.1:p.Pro1652Gln
NM_001318827.2:c.4715C>A	NP_001305756.1:p.Pro1572Gln
NM_001318829.2:c.4679C>A	NP_001305758.1:p.Pro1560Gln
NM_001318831.2:c.4292C>A	NP_001305760.1:p.Pro1431Gln
NM_001318832.2:c.4856C>A	NP_001305761.1:p.Pro1619Gln
NM_001363528.2:c.4826C>A	NP_001350457.1:p.Pro1609Gln
NM_021055.3:c.4895C>A	NP_066399.2:p.Pro1632Gln