Canonical Allele Identifier: CA276754038

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1088039
• ClinVar RCV Id: RCV001406353
• dbSNP Id: rs958487832
• gnomAD v3: 16-2085012-C-T
• gnomAD v4: 16-2085012-C-T
• MyVariant Identifiers: chr16:g.2135013C>T (hg19) ; chr16:g.2085012C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085012C>T , CM000678.2:g.2085012C>T	GRCh38
NC_000016.9:g.2135013C>T , CM000678.1:g.2135013C>T	GRCh37
NC_000016.8:g.2075014C>T	NCBI36
NG_005895.1:g.40707C>T , LRG_487:g.40707C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2904C>T	ENSP00000455997.2:n.*2904C>T
ENST00000642206.2:c.4402C>T	ENSP00000495146.2:p.Leu1468=
ENST00000642365.2:c.4552C>T	ENSP00000495459.2:p.Leu1518=
ENST00000644417.2:c.*4935C>T	ENSP00000493912.2:n.*4935C>T
ENST00000646464.2:c.*7304C>T	ENSP00000496610.2:n.*7304C>T
ENST00000219476.9:c.4555C>T MANE Select	ENSP00000219476.3:p.Leu1519=
ENST00000350773.9:c.4486C>T	ENSP00000344383.4:p.Leu1496=
ENST00000401874.7:c.4354C>T	ENSP00000384468.2:p.Leu1452=
ENST00000568454.6:c.4387C>T	ENSP00000454487.1:p.Leu1463=
ENST00000569110.2:c.778C>T
ENST00000569930.2:n.2437C>T
ENST00000642365.1:c.3209C>T
ENST00000642561.1:c.4426C>T	ENSP00000495099.1:p.Leu1476=
ENST00000642728.1:n.737C>T
ENST00000642797.1:c.4357C>T	ENSP00000493846.1:p.Leu1453=
ENST00000642936.1:c.4423C>T	ENSP00000494514.1:p.Leu1475=
ENST00000643088.1:c.4354C>T	ENSP00000494747.1:p.Leu1452=
ENST00000643177.1:n.569C>T
ENST00000643426.1:n.2203C>T
ENST00000643946.1:c.4486C>T	ENSP00000495927.1:p.Leu1496=
ENST00000644043.1:c.4426C>T	ENSP00000496262.1:p.Leu1476=
ENST00000644329.1:c.4354C>T	ENSP00000496611.1:p.Leu1452=
ENST00000644335.1:c.4357C>T	ENSP00000496317.1:p.Leu1453=
ENST00000644399.1:c.4476C>T
ENST00000645024.1:n.2639C>T
ENST00000646388.1:c.4555C>T	ENSP00000495921.1:p.Leu1519=
ENST00000646634.1:n.3370C>T
ENST00000646674.1:n.1807C>T
ENST00000647042.1:n.1778C>T
ENST00000647180.1:n.1668C>T
ENST00000219476.7:c.4555C>T	ENSP00000219476.3:p.Leu1519=
ENST00000350773.8:c.4486C>T	ENSP00000344383.4:p.Leu1496=
ENST00000382538.10:c.4210C>T	ENSP00000371978.6:p.Leu1404=
ENST00000401874.6:c.4354C>T	ENSP00000384468.2:p.Leu1452=
ENST00000439117.6:c.*3722C>T	ENSP00000406980.2:n.*3722C>T
ENST00000439673.6:c.4246C>T	ENSP00000399232.2:p.Leu1416=
ENST00000497886.5:n.2313C>T
ENST00000568454.5:c.4387C>T	ENSP00000454487.1:p.Leu1463=
ENST00000569110.1:c.737C>T
ENST00000569930.1:n.1670C>T
NM_000548.3:c.4555C>T , LRG_487t1:c.4555C>T	NP_000539.2:p.Leu1519=
NM_001077183.1:c.4354C>T	NP_001070651.1:p.Leu1452=
NM_001114382.1:c.4486C>T	NP_001107854.1:p.Leu1496=
XM_005255529.3:c.4426C>T	XP_005255586.2:p.Leu1476=
XM_005255531.3:c.4357C>T	XP_005255588.2:p.Leu1453=
XM_011522636.1:c.4609C>T	XP_011520938.1:p.Leu1537=
XM_011522637.1:c.4606C>T	XP_011520939.1:p.Leu1536=
XM_011522638.1:c.4498C>T	XP_011520940.1:p.Leu1500=
XM_011522639.1:c.4480C>T	XP_011520941.1:p.Leu1494=
XM_011522640.1:c.4477C>T	XP_011520942.1:p.Leu1493=
XM_011522641.1:c.4246C>T	XP_011520943.1:p.Leu1416=
NM_000548.4:c.4555C>T	NP_000539.2:p.Leu1519=
NM_001077183.2:c.4354C>T	NP_001070651.1:p.Leu1452=
NM_001114382.2:c.4486C>T	NP_001107854.1:p.Leu1496=
NM_001318827.1:c.4246C>T	NP_001305756.1:p.Leu1416=
NM_001318829.1:c.4210C>T	NP_001305758.1:p.Leu1404=
NM_001318831.1:c.3823C>T	NP_001305760.1:p.Leu1275=
NM_001318832.1:c.4387C>T	NP_001305761.1:p.Leu1463=
NM_001363528.1:c.4357C>T	NP_001350457.1:p.Leu1453=
NM_021055.2:c.4426C>T	NP_066399.2:p.Leu1476=
XM_005255531.4:c.4357C>T	XP_005255588.2:p.Leu1453=
XM_011522636.2:c.4609C>T	XP_011520938.1:p.Leu1537=
XM_011522637.2:c.4606C>T	XP_011520939.1:p.Leu1536=
XM_011522638.2:c.4771C>T	XP_011520940.2:p.Leu1591=
XM_011522639.2:c.4480C>T	XP_011520941.1:p.Leu1494=
XM_011522640.2:c.4477C>T	XP_011520942.1:p.Leu1493=
XM_017023615.1:c.4552C>T	XP_016879104.1:p.Leu1518=
XM_017023616.1:c.4423C>T	XP_016879105.1:p.Leu1475=
XM_017023617.1:c.4519C>T	XP_016879106.1:p.Leu1507=
XM_017023618.1:c.3265C>T	XP_016879107.1:p.Leu1089=
XM_024450413.1:c.4354C>T	XP_024306181.1:p.Leu1452=
NM_000548.5:c.4555C>T MANE Select	NP_000539.2:p.Leu1519=
NM_001370404.1:c.4423C>T	NP_001357333.1:p.Leu1475=
NM_001370405.1:c.4426C>T	NP_001357334.1:p.Leu1476=
NM_001077183.3:c.4354C>T	NP_001070651.1:p.Leu1452=
NM_001114382.3:c.4486C>T	NP_001107854.1:p.Leu1496=
NM_001318827.2:c.4246C>T	NP_001305756.1:p.Leu1416=
NM_001318829.2:c.4210C>T	NP_001305758.1:p.Leu1404=
NM_001318831.2:c.3823C>T	NP_001305760.1:p.Leu1275=
NM_001318832.2:c.4387C>T	NP_001305761.1:p.Leu1463=
NM_001363528.2:c.4357C>T	NP_001350457.1:p.Leu1453=
NM_021055.3:c.4426C>T	NP_066399.2:p.Leu1476=