Canonical Allele Identifier: CA394279487

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1007392
• ClinVar RCV Id: RCV001304571 ; RCV003166723
• dbSNP Id: rs137920189
• MyVariant Identifiers: chr16:g.2126141C>A (hg19) ; chr16:g.2076140C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2076140C>A , CM000678.2:g.2076140C>A	GRCh38
NC_000016.9:g.2126141C>A , CM000678.1:g.2126141C>A	GRCh37
NC_000016.8:g.2066142C>A	NCBI36
NG_005895.1:g.31835C>A , LRG_487:g.31835C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1259C>A	ENSP00000455997.2:n.*1259C>A
ENST00000642206.2:c.2757C>A	ENSP00000495146.2:p.Phe919Leu
ENST00000642365.2:c.2712C>A	ENSP00000495459.2:p.Phe904Leu
ENST00000644417.2:c.*2149C>A	ENSP00000493912.2:n.*2149C>A
ENST00000646464.2:c.*3766C>A	ENSP00000496610.2:n.*3766C>A
ENST00000219476.9:c.2712C>A MANE Select	ENSP00000219476.3:p.Phe904Leu
ENST00000350773.9:c.2712C>A	ENSP00000344383.4:p.Phe904Leu
ENST00000401874.7:c.2712C>A	ENSP00000384468.2:p.Phe904Leu
ENST00000568454.6:c.2745C>A	ENSP00000454487.1:p.Phe915Leu
ENST00000642365.1:c.1369C>A
ENST00000642561.1:c.2712C>A	ENSP00000495099.1:p.Phe904Leu
ENST00000642797.1:c.2712C>A	ENSP00000493846.1:p.Phe904Leu
ENST00000642936.1:c.2712C>A	ENSP00000494514.1:p.Phe904Leu
ENST00000643088.1:c.2712C>A	ENSP00000494747.1:p.Phe904Leu
ENST00000643946.1:c.2712C>A	ENSP00000495927.1:p.Phe904Leu
ENST00000644043.1:c.2712C>A	ENSP00000496262.1:p.Phe904Leu
ENST00000644329.1:c.2712C>A	ENSP00000496611.1:p.Phe904Leu
ENST00000644335.1:c.2712C>A	ENSP00000496317.1:p.Phe904Leu
ENST00000644399.1:c.2705C>A
ENST00000645024.1:n.994C>A
ENST00000645192.1:n.4C>A
ENST00000646388.1:c.2712C>A	ENSP00000495921.1:p.Phe904Leu
ENST00000646634.1:n.1725C>A
ENST00000219476.7:c.2712C>A	ENSP00000219476.3:p.Phe904Leu
ENST00000350773.8:c.2712C>A	ENSP00000344383.4:p.Phe904Leu
ENST00000382538.10:c.2565C>A	ENSP00000371978.6:p.Phe855Leu
ENST00000401874.6:c.2712C>A	ENSP00000384468.2:p.Phe904Leu
ENST00000439117.6:c.*2011C>A	ENSP00000406980.2:n.*2011C>A
ENST00000439673.6:c.2601C>A	ENSP00000399232.2:p.Phe867Leu
ENST00000568454.5:c.2745C>A	ENSP00000454487.1:p.Phe915Leu
NM_000548.3:c.2712C>A , LRG_487t1:c.2712C>A	NP_000539.2:p.Phe904Leu
NM_001077183.1:c.2712C>A	NP_001070651.1:p.Phe904Leu
NM_001114382.1:c.2712C>A	NP_001107854.1:p.Phe904Leu
XM_005255529.3:c.2712C>A	XP_005255586.2:p.Phe904Leu
XM_005255531.3:c.2712C>A	XP_005255588.2:p.Phe904Leu
XM_011522636.1:c.2712C>A	XP_011520938.1:p.Phe904Leu
XM_011522637.1:c.2712C>A	XP_011520939.1:p.Phe904Leu
XM_011522638.1:c.2601C>A	XP_011520940.1:p.Phe867Leu
XM_011522639.1:c.2712C>A	XP_011520941.1:p.Phe904Leu
XM_011522640.1:c.2712C>A	XP_011520942.1:p.Phe904Leu
XM_011522641.1:c.2601C>A	XP_011520943.1:p.Phe867Leu
NM_000548.4:c.2712C>A	NP_000539.2:p.Phe904Leu
NM_001077183.2:c.2712C>A	NP_001070651.1:p.Phe904Leu
NM_001114382.2:c.2712C>A	NP_001107854.1:p.Phe904Leu
NM_001318827.1:c.2601C>A	NP_001305756.1:p.Phe867Leu
NM_001318829.1:c.2565C>A	NP_001305758.1:p.Phe855Leu
NM_001318831.1:c.2112C>A	NP_001305760.1:p.Phe704Leu
NM_001318832.1:c.2745C>A	NP_001305761.1:p.Phe915Leu
NM_001363528.1:c.2712C>A	NP_001350457.1:p.Phe904Leu
NM_021055.2:c.2712C>A	NP_066399.2:p.Phe904Leu
XM_005255531.4:c.2712C>A	XP_005255588.2:p.Phe904Leu
XM_011522636.2:c.2712C>A	XP_011520938.1:p.Phe904Leu
XM_011522637.2:c.2712C>A	XP_011520939.1:p.Phe904Leu
XM_011522638.2:c.2874C>A	XP_011520940.2:p.Phe958Leu
XM_011522639.2:c.2712C>A	XP_011520941.1:p.Phe904Leu
XM_011522640.2:c.2712C>A	XP_011520942.1:p.Phe904Leu
XM_017023615.1:c.2712C>A	XP_016879104.1:p.Phe904Leu
XM_017023616.1:c.2712C>A	XP_016879105.1:p.Phe904Leu
XM_017023617.1:c.2874C>A	XP_016879106.1:p.Phe958Leu
XM_017023618.1:c.1368C>A	XP_016879107.1:p.Phe456Leu
XM_024450413.1:c.2712C>A	XP_024306181.1:p.Phe904Leu
NM_000548.5:c.2712C>A MANE Select	NP_000539.2:p.Phe904Leu
NM_001370404.1:c.2712C>A	NP_001357333.1:p.Phe904Leu
NM_001370405.1:c.2712C>A	NP_001357334.1:p.Phe904Leu
NM_001077183.3:c.2712C>A	NP_001070651.1:p.Phe904Leu
NM_001114382.3:c.2712C>A	NP_001107854.1:p.Phe904Leu
NM_001318827.2:c.2601C>A	NP_001305756.1:p.Phe867Leu
NM_001318829.2:c.2565C>A	NP_001305758.1:p.Phe855Leu
NM_001318831.2:c.2112C>A	NP_001305760.1:p.Phe704Leu
NM_001318832.2:c.2745C>A	NP_001305761.1:p.Phe915Leu
NM_001363528.2:c.2712C>A	NP_001350457.1:p.Phe904Leu
NM_021055.3:c.2712C>A	NP_066399.2:p.Phe904Leu