Canonical Allele Identifier: CA276758489

Gene: TSC2

Linked Data

• ClinVar Variation Id: 515359
• ClinVar RCV Id: RCV000612064 ; RCV001294927 ; RCV002256413
• dbSNP Id: rs145002269
• gnomAD v4: 16-2087865-C-T
• MyVariant Identifiers: chr16:g.2137866C>T (hg19) ; chr16:g.2087865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2087865C>T , CM000678.2:g.2087865C>T	GRCh38
NC_000016.9:g.2137866C>T , CM000678.1:g.2137866C>T	GRCh37
NC_000016.8:g.2077867C>T	NCBI36
NG_005895.1:g.43560C>T , LRG_487:g.43560C>T
NG_008617.1:g.55356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3341C>T	ENSP00000455997.2:n.*3341C>T
ENST00000642206.2:c.4839C>T	ENSP00000495146.2:p.Gly1613=
ENST00000642365.2:c.4989C>T	ENSP00000495459.2:p.Gly1663=
ENST00000644417.2:c.*5505C>T	ENSP00000493912.2:n.*5505C>T
ENST00000646464.2:c.*7741C>T	ENSP00000496610.2:n.*7741C>T
ENST00000219476.9:c.4992C>T MANE Select	ENSP00000219476.3:p.Gly1664=
ENST00000350773.9:c.4923C>T	ENSP00000344383.4:p.Gly1641=
ENST00000401874.7:c.4791C>T	ENSP00000384468.2:p.Gly1597=
ENST00000568454.6:c.4824C>T	ENSP00000454487.1:p.Gly1608=
ENST00000569110.2:c.1215C>T
ENST00000569930.2:n.2874C>T
ENST00000642365.1:c.3646C>T
ENST00000642561.1:c.4863C>T	ENSP00000495099.1:p.Gly1621=
ENST00000642791.1:n.589C>T
ENST00000642797.1:c.4794C>T	ENSP00000493846.1:p.Gly1598=
ENST00000642936.1:c.4860C>T	ENSP00000494514.1:p.Gly1620=
ENST00000643088.1:c.4785C>T	ENSP00000494747.1:p.Gly1595=
ENST00000643177.1:n.1006C>T
ENST00000643426.1:n.2640C>T
ENST00000643946.1:c.4917C>T	ENSP00000495927.1:p.Gly1639=
ENST00000644043.1:c.4863C>T	ENSP00000496262.1:p.Gly1621=
ENST00000644278.1:n.474C>T
ENST00000644329.1:c.4791C>T	ENSP00000496611.1:p.Gly1597=
ENST00000644335.1:c.4788C>T	ENSP00000496317.1:p.Gly1596=
ENST00000644399.1:c.4913C>T
ENST00000645024.1:n.3076C>T
ENST00000646388.1:c.4986C>T	ENSP00000495921.1:p.Gly1662=
ENST00000646634.1:n.3807C>T
ENST00000646674.1:n.2244C>T
ENST00000647042.1:n.2215C>T
ENST00000647180.1:n.2105C>T
ENST00000219476.7:c.4992C>T	ENSP00000219476.3:p.Gly1664=
ENST00000350773.8:c.4923C>T	ENSP00000344383.4:p.Gly1641=
ENST00000382538.10:c.4647C>T	ENSP00000371978.6:p.Gly1549=
ENST00000401874.6:c.4791C>T	ENSP00000384468.2:p.Gly1597=
ENST00000439117.6:c.*4159C>T	ENSP00000406980.2:n.*4159C>T
ENST00000439673.6:c.4683C>T	ENSP00000399232.2:p.Gly1561=
ENST00000497886.5:n.2715C>T
ENST00000568454.5:c.4824C>T	ENSP00000454487.1:p.Gly1608=
ENST00000569110.1:c.1174C>T
ENST00000569930.1:n.2107C>T
NM_000548.3:c.4992C>T , LRG_487t1:c.4992C>T	NP_000539.2:p.Gly1664=
NM_001077183.1:c.4791C>T	NP_001070651.1:p.Gly1597=
NM_001114382.1:c.4923C>T	NP_001107854.1:p.Gly1641=
XM_005255529.3:c.4863C>T	XP_005255586.2:p.Gly1621=
XM_005255531.3:c.4794C>T	XP_005255588.2:p.Gly1598=
XM_011522636.1:c.5046C>T	XP_011520938.1:p.Gly1682=
XM_011522637.1:c.5043C>T	XP_011520939.1:p.Gly1681=
XM_011522638.1:c.4935C>T	XP_011520940.1:p.Gly1645=
XM_011522639.1:c.4917C>T	XP_011520941.1:p.Gly1639=
XM_011522640.1:c.4914C>T	XP_011520942.1:p.Gly1638=
XM_011522641.1:c.4683C>T	XP_011520943.1:p.Gly1561=
NM_000548.4:c.4992C>T	NP_000539.2:p.Gly1664=
NM_001077183.2:c.4791C>T	NP_001070651.1:p.Gly1597=
NM_001114382.2:c.4923C>T	NP_001107854.1:p.Gly1641=
NM_001318827.1:c.4683C>T	NP_001305756.1:p.Gly1561=
NM_001318829.1:c.4647C>T	NP_001305758.1:p.Gly1549=
NM_001318831.1:c.4260C>T	NP_001305760.1:p.Gly1420=
NM_001318832.1:c.4824C>T	NP_001305761.1:p.Gly1608=
NM_001363528.1:c.4794C>T	NP_001350457.1:p.Gly1598=
NM_021055.2:c.4863C>T	NP_066399.2:p.Gly1621=
XM_005255531.4:c.4794C>T	XP_005255588.2:p.Gly1598=
XM_011522636.2:c.5046C>T	XP_011520938.1:p.Gly1682=
XM_011522637.2:c.5043C>T	XP_011520939.1:p.Gly1681=
XM_011522638.2:c.5208C>T	XP_011520940.2:p.Gly1736=
XM_011522639.2:c.4917C>T	XP_011520941.1:p.Gly1639=
XM_011522640.2:c.4914C>T	XP_011520942.1:p.Gly1638=
XM_017023615.1:c.4989C>T	XP_016879104.1:p.Gly1663=
XM_017023616.1:c.4860C>T	XP_016879105.1:p.Gly1620=
XM_017023617.1:c.4956C>T	XP_016879106.1:p.Gly1652=
XM_017023618.1:c.3702C>T	XP_016879107.1:p.Gly1234=
XM_024450413.1:c.4791C>T	XP_024306181.1:p.Gly1597=
NM_000548.5:c.4992C>T MANE Select	NP_000539.2:p.Gly1664=
NM_001370404.1:c.4860C>T	NP_001357333.1:p.Gly1620=
NM_001370405.1:c.4863C>T	NP_001357334.1:p.Gly1621=
NM_001077183.3:c.4791C>T	NP_001070651.1:p.Gly1597=
NM_001114382.3:c.4923C>T	NP_001107854.1:p.Gly1641=
NM_001318827.2:c.4683C>T	NP_001305756.1:p.Gly1561=
NM_001318829.2:c.4647C>T	NP_001305758.1:p.Gly1549=
NM_001318831.2:c.4260C>T	NP_001305760.1:p.Gly1420=
NM_001318832.2:c.4824C>T	NP_001305761.1:p.Gly1608=
NM_001363528.2:c.4794C>T	NP_001350457.1:p.Gly1598=
NM_021055.3:c.4863C>T	NP_066399.2:p.Gly1621=