Canonical Allele Identifier: CA394274561

Gene: TSC2

Linked Data

• ClinVar Variation Id: 589454
• ClinVar RCV Id: RCV000815171 ; RCV002316686
• dbSNP Id: rs876658578
• gnomAD v4: 16-2071875-C-G
• MyVariant Identifiers: chr16:g.2121876C>G (hg19) ; chr16:g.2071875C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2071875C>G , CM000678.2:g.2071875C>G	GRCh38
NC_000016.9:g.2121876C>G , CM000678.1:g.2121876C>G	GRCh37
NC_000016.8:g.2061877C>G	NCBI36
NG_005895.1:g.27570C>G , LRG_487:g.27570C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*585C>G	ENSP00000455997.2:n.*585C>G
ENST00000642206.2:c.2083C>G	ENSP00000495146.2:p.Arg695Gly
ENST00000642365.2:c.2038C>G	ENSP00000495459.2:p.Arg680Gly
ENST00000644417.2:c.*1475C>G	ENSP00000493912.2:n.*1475C>G
ENST00000646464.2:c.*1643C>G	ENSP00000496610.2:n.*1643C>G
ENST00000219476.9:c.2038C>G MANE Select	ENSP00000219476.3:p.Arg680Gly
ENST00000350773.9:c.2038C>G	ENSP00000344383.4:p.Arg680Gly
ENST00000401874.7:c.2038C>G	ENSP00000384468.2:p.Arg680Gly
ENST00000563346.2:n.216C>G
ENST00000568454.6:c.2071C>G	ENSP00000454487.1:p.Arg691Gly
ENST00000642365.1:c.695C>G
ENST00000642561.1:c.2038C>G	ENSP00000495099.1:p.Arg680Gly
ENST00000642797.1:c.2038C>G	ENSP00000493846.1:p.Arg680Gly
ENST00000642936.1:c.2038C>G	ENSP00000494514.1:p.Arg680Gly
ENST00000643088.1:c.2038C>G	ENSP00000494747.1:p.Arg680Gly
ENST00000643298.1:c.*1540C>G	ENSP00000494393.1:n.*1540C>G
ENST00000643946.1:c.2038C>G	ENSP00000495927.1:p.Arg680Gly
ENST00000644043.1:c.2038C>G	ENSP00000496262.1:p.Arg680Gly
ENST00000644329.1:c.2038C>G	ENSP00000496611.1:p.Arg680Gly
ENST00000644335.1:c.2038C>G	ENSP00000496317.1:p.Arg680Gly
ENST00000644399.1:c.2031C>G
ENST00000644847.1:n.1030C>G
ENST00000645024.1:n.320C>G
ENST00000645552.1:n.318C>G
ENST00000646388.1:c.2038C>G	ENSP00000495921.1:p.Arg680Gly
ENST00000646464.1:c.91C>G	ENSP00000496610.1:p.Arg31Gly
ENST00000646634.1:n.1051C>G
ENST00000219476.7:c.2038C>G	ENSP00000219476.3:p.Arg680Gly
ENST00000350773.8:c.2038C>G	ENSP00000344383.4:p.Arg680Gly
ENST00000382538.10:c.1891C>G	ENSP00000371978.6:p.Arg631Gly
ENST00000401874.6:c.2038C>G	ENSP00000384468.2:p.Arg680Gly
ENST00000439117.6:c.*1337C>G	ENSP00000406980.2:n.*1337C>G
ENST00000439673.6:c.1927C>G	ENSP00000399232.2:p.Arg643Gly
ENST00000488675.5:n.545C>G
ENST00000563346.1:n.107C>G
ENST00000568454.5:c.2071C>G	ENSP00000454487.1:p.Arg691Gly
NM_000548.3:c.2038C>G , LRG_487t1:c.2038C>G	NP_000539.2:p.Arg680Gly
NM_001077183.1:c.2038C>G	NP_001070651.1:p.Arg680Gly
NM_001114382.1:c.2038C>G	NP_001107854.1:p.Arg680Gly
XM_005255529.3:c.2038C>G	XP_005255586.2:p.Arg680Gly
XM_005255531.3:c.2038C>G	XP_005255588.2:p.Arg680Gly
XM_011522636.1:c.2038C>G	XP_011520938.1:p.Arg680Gly
XM_011522637.1:c.2038C>G	XP_011520939.1:p.Arg680Gly
XM_011522638.1:c.1927C>G	XP_011520940.1:p.Arg643Gly
XM_011522639.1:c.2038C>G	XP_011520941.1:p.Arg680Gly
XM_011522640.1:c.2038C>G	XP_011520942.1:p.Arg680Gly
XM_011522641.1:c.1927C>G	XP_011520943.1:p.Arg643Gly
NM_000548.4:c.2038C>G	NP_000539.2:p.Arg680Gly
NM_001077183.2:c.2038C>G	NP_001070651.1:p.Arg680Gly
NM_001114382.2:c.2038C>G	NP_001107854.1:p.Arg680Gly
NM_001318827.1:c.1927C>G	NP_001305756.1:p.Arg643Gly
NM_001318829.1:c.1891C>G	NP_001305758.1:p.Arg631Gly
NM_001318831.1:c.1438C>G	NP_001305760.1:p.Arg480Gly
NM_001318832.1:c.2071C>G	NP_001305761.1:p.Arg691Gly
NM_001363528.1:c.2038C>G	NP_001350457.1:p.Arg680Gly
NM_021055.2:c.2038C>G	NP_066399.2:p.Arg680Gly
XM_005255531.4:c.2038C>G	XP_005255588.2:p.Arg680Gly
XM_011522636.2:c.2038C>G	XP_011520938.1:p.Arg680Gly
XM_011522637.2:c.2038C>G	XP_011520939.1:p.Arg680Gly
XM_011522638.2:c.2200C>G	XP_011520940.2:p.Arg734Gly
XM_011522639.2:c.2038C>G	XP_011520941.1:p.Arg680Gly
XM_011522640.2:c.2038C>G	XP_011520942.1:p.Arg680Gly
XM_017023615.1:c.2038C>G	XP_016879104.1:p.Arg680Gly
XM_017023616.1:c.2038C>G	XP_016879105.1:p.Arg680Gly
XM_017023617.1:c.2200C>G	XP_016879106.1:p.Arg734Gly
XM_017023618.1:c.694C>G	XP_016879107.1:p.Arg232Gly
XM_024450413.1:c.2038C>G	XP_024306181.1:p.Arg680Gly
NM_000548.5:c.2038C>G MANE Select	NP_000539.2:p.Arg680Gly
NM_001370404.1:c.2038C>G	NP_001357333.1:p.Arg680Gly
NM_001370405.1:c.2038C>G	NP_001357334.1:p.Arg680Gly
NM_001077183.3:c.2038C>G	NP_001070651.1:p.Arg680Gly
NM_001114382.3:c.2038C>G	NP_001107854.1:p.Arg680Gly
NM_001318827.2:c.1927C>G	NP_001305756.1:p.Arg643Gly
NM_001318829.2:c.1891C>G	NP_001305758.1:p.Arg631Gly
NM_001318831.2:c.1438C>G	NP_001305760.1:p.Arg480Gly
NM_001318832.2:c.2071C>G	NP_001305761.1:p.Arg691Gly
NM_001363528.2:c.2038C>G	NP_001350457.1:p.Arg680Gly
NM_021055.3:c.2038C>G	NP_066399.2:p.Arg680Gly