Canonical Allele Identifier: CA10648020

Gene: TSC2

Linked Data

• ClinVar Variation Id: 318323
• ClinVar RCV Id: RCV000319884 ; RCV000686655 ; RCV001551212 ; RCV002436165
• dbSNP Id: rs886051791
• gnomAD v4: 16-2076582-A-G
• MyVariant Identifiers: chr16:g.2126583A>G (hg19) ; chr16:g.2076582A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2076582A>G , CM000678.2:g.2076582A>G	GRCh38
NC_000016.9:g.2126583A>G , CM000678.1:g.2126583A>G	GRCh37
NC_000016.8:g.2066584A>G	NCBI36
NG_005895.1:g.32277A>G , LRG_487:g.32277A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1381A>G	ENSP00000455997.2:n.*1381A>G
ENST00000642206.2:c.2879A>G	ENSP00000495146.2:p.Lys960Arg
ENST00000642365.2:c.2834A>G	ENSP00000495459.2:p.Lys945Arg
ENST00000644417.2:c.*2271A>G	ENSP00000493912.2:n.*2271A>G
ENST00000646464.2:c.*3888A>G	ENSP00000496610.2:n.*3888A>G
ENST00000219476.9:c.2834A>G MANE Select	ENSP00000219476.3:p.Lys945Arg
ENST00000350773.9:c.2834A>G	ENSP00000344383.4:p.Lys945Arg
ENST00000401874.7:c.2834A>G	ENSP00000384468.2:p.Lys945Arg
ENST00000471143.6:c.194A>G	ENSP00000458541.2:n.194A>G
ENST00000568454.6:c.2867A>G	ENSP00000454487.1:p.Lys956Arg
ENST00000642365.1:c.1491A>G
ENST00000642561.1:c.2834A>G	ENSP00000495099.1:p.Lys945Arg
ENST00000642797.1:c.2834A>G	ENSP00000493846.1:p.Lys945Arg
ENST00000642936.1:c.2834A>G	ENSP00000494514.1:p.Lys945Arg
ENST00000643088.1:c.2834A>G	ENSP00000494747.1:p.Lys945Arg
ENST00000643946.1:c.2834A>G	ENSP00000495927.1:p.Lys945Arg
ENST00000644043.1:c.2834A>G	ENSP00000496262.1:p.Lys945Arg
ENST00000644329.1:c.2834A>G	ENSP00000496611.1:p.Lys945Arg
ENST00000644335.1:c.2834A>G	ENSP00000496317.1:p.Lys945Arg
ENST00000644399.1:c.2827A>G
ENST00000645024.1:n.1116A>G
ENST00000645192.1:n.126A>G
ENST00000646388.1:c.2834A>G	ENSP00000495921.1:p.Lys945Arg
ENST00000646634.1:n.1847A>G
ENST00000219476.7:c.2834A>G	ENSP00000219476.3:p.Lys945Arg
ENST00000350773.8:c.2834A>G	ENSP00000344383.4:p.Lys945Arg
ENST00000382538.10:c.2687A>G	ENSP00000371978.6:p.Lys896Arg
ENST00000401874.6:c.2834A>G	ENSP00000384468.2:p.Lys945Arg
ENST00000439117.6:c.*2133A>G	ENSP00000406980.2:n.*2133A>G
ENST00000439673.6:c.2723A>G	ENSP00000399232.2:p.Lys908Arg
ENST00000471143.5:c.192A>G
ENST00000483020.5:c.203A>G	ENSP00000460310.1:n.203A>G
ENST00000568454.5:c.2867A>G	ENSP00000454487.1:p.Lys956Arg
NM_000548.3:c.2834A>G , LRG_487t1:c.2834A>G	NP_000539.2:p.Lys945Arg
NM_001077183.1:c.2834A>G	NP_001070651.1:p.Lys945Arg
NM_001114382.1:c.2834A>G	NP_001107854.1:p.Lys945Arg
XM_005255529.3:c.2834A>G	XP_005255586.2:p.Lys945Arg
XM_005255531.3:c.2834A>G	XP_005255588.2:p.Lys945Arg
XM_011522636.1:c.2834A>G	XP_011520938.1:p.Lys945Arg
XM_011522637.1:c.2834A>G	XP_011520939.1:p.Lys945Arg
XM_011522638.1:c.2723A>G	XP_011520940.1:p.Lys908Arg
XM_011522639.1:c.2834A>G	XP_011520941.1:p.Lys945Arg
XM_011522640.1:c.2834A>G	XP_011520942.1:p.Lys945Arg
XM_011522641.1:c.2723A>G	XP_011520943.1:p.Lys908Arg
NM_000548.4:c.2834A>G	NP_000539.2:p.Lys945Arg
NM_001077183.2:c.2834A>G	NP_001070651.1:p.Lys945Arg
NM_001114382.2:c.2834A>G	NP_001107854.1:p.Lys945Arg
NM_001318827.1:c.2723A>G	NP_001305756.1:p.Lys908Arg
NM_001318829.1:c.2687A>G	NP_001305758.1:p.Lys896Arg
NM_001318831.1:c.2234A>G	NP_001305760.1:p.Lys745Arg
NM_001318832.1:c.2867A>G	NP_001305761.1:p.Lys956Arg
NM_001363528.1:c.2834A>G	NP_001350457.1:p.Lys945Arg
NM_021055.2:c.2834A>G	NP_066399.2:p.Lys945Arg
XM_005255531.4:c.2834A>G	XP_005255588.2:p.Lys945Arg
XM_011522636.2:c.2834A>G	XP_011520938.1:p.Lys945Arg
XM_011522637.2:c.2834A>G	XP_011520939.1:p.Lys945Arg
XM_011522638.2:c.2996A>G	XP_011520940.2:p.Lys999Arg
XM_011522639.2:c.2834A>G	XP_011520941.1:p.Lys945Arg
XM_011522640.2:c.2834A>G	XP_011520942.1:p.Lys945Arg
XM_017023615.1:c.2834A>G	XP_016879104.1:p.Lys945Arg
XM_017023616.1:c.2834A>G	XP_016879105.1:p.Lys945Arg
XM_017023617.1:c.2996A>G	XP_016879106.1:p.Lys999Arg
XM_017023618.1:c.1490A>G	XP_016879107.1:p.Lys497Arg
XM_024450413.1:c.2834A>G	XP_024306181.1:p.Lys945Arg
NM_000548.5:c.2834A>G MANE Select	NP_000539.2:p.Lys945Arg
NM_001370404.1:c.2834A>G	NP_001357333.1:p.Lys945Arg
NM_001370405.1:c.2834A>G	NP_001357334.1:p.Lys945Arg
NM_001077183.3:c.2834A>G	NP_001070651.1:p.Lys945Arg
NM_001114382.3:c.2834A>G	NP_001107854.1:p.Lys945Arg
NM_001318827.2:c.2723A>G	NP_001305756.1:p.Lys908Arg
NM_001318829.2:c.2687A>G	NP_001305758.1:p.Lys896Arg
NM_001318831.2:c.2234A>G	NP_001305760.1:p.Lys745Arg
NM_001318832.2:c.2867A>G	NP_001305761.1:p.Lys956Arg
NM_001363528.2:c.2834A>G	NP_001350457.1:p.Lys945Arg
NM_021055.3:c.2834A>G	NP_066399.2:p.Lys945Arg