Canonical Allele Identifier: CA054450

Gene: TSC2

Linked Data

• ClinVar Variation Id: 406050
• ClinVar RCV Id: RCV000473435 ; RCV001023737 ; RCV001546269
• dbSNP Id: rs749326176
• ExAC: 16:2138277 C / T
• gnomAD v2: 16-2138277-C-T
• gnomAD v3: 16-2088276-C-T
• gnomAD v4: 16-2088276-C-T
• MyVariant Identifiers: chr16:g.2138277C>T (hg19) ; chr16:g.2088276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088276C>T , CM000678.2:g.2088276C>T	GRCh38
NC_000016.9:g.2138277C>T , CM000678.1:g.2138277C>T	GRCh37
NC_000016.8:g.2078278C>T	NCBI36
NG_005895.1:g.43971C>T , LRG_487:g.43971C>T
NG_008617.1:g.54945G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3559C>T	ENSP00000455997.2:n.*3559C>T
ENST00000642206.2:c.5057C>T	ENSP00000495146.2:p.Pro1686Leu
ENST00000642365.2:c.5207C>T	ENSP00000495459.2:p.Pro1736Leu
ENST00000644417.2:c.*5723C>T	ENSP00000493912.2:n.*5723C>T
ENST00000646464.2:c.*7959C>T	ENSP00000496610.2:n.*7959C>T
ENST00000219476.9:c.5210C>T MANE Select	ENSP00000219476.3:p.Pro1737Leu
ENST00000350773.9:c.5141C>T	ENSP00000344383.4:p.Pro1714Leu
ENST00000401874.7:c.5009C>T	ENSP00000384468.2:p.Pro1670Leu
ENST00000568454.6:c.5042C>T	ENSP00000454487.1:p.Pro1681Leu
ENST00000569110.2:c.1433C>T
ENST00000569930.2:n.3092C>T
ENST00000642365.1:c.3864C>T
ENST00000642561.1:c.5069C>T	ENSP00000495099.1:p.Pro1690Leu
ENST00000642791.1:n.807C>T
ENST00000642797.1:c.5012C>T	ENSP00000493846.1:p.Pro1671Leu
ENST00000642936.1:c.5078C>T	ENSP00000494514.1:p.Pro1693Leu
ENST00000643088.1:c.5003C>T	ENSP00000494747.1:p.Pro1668Leu
ENST00000643426.1:n.2858C>T
ENST00000643946.1:c.5135C>T	ENSP00000495927.1:p.Pro1712Leu
ENST00000644043.1:c.5081C>T	ENSP00000496262.1:p.Pro1694Leu
ENST00000644329.1:c.5096C>T	ENSP00000496611.1:p.Pro1699Leu
ENST00000644335.1:c.5006C>T	ENSP00000496317.1:p.Pro1669Leu
ENST00000644399.1:c.5131C>T
ENST00000645024.1:n.3294C>T
ENST00000646388.1:c.5204C>T	ENSP00000495921.1:p.Pro1735Leu
ENST00000646634.1:n.4025C>T
ENST00000646674.1:n.2462C>T
ENST00000647042.1:n.2433C>T
ENST00000647180.1:n.2323C>T
ENST00000219476.7:c.5210C>T	ENSP00000219476.3:p.Pro1737Leu
ENST00000350773.8:c.5141C>T	ENSP00000344383.4:p.Pro1714Leu
ENST00000382538.10:c.4865C>T	ENSP00000371978.6:p.Pro1622Leu
ENST00000401874.6:c.5009C>T	ENSP00000384468.2:p.Pro1670Leu
ENST00000439117.6:c.*4377C>T	ENSP00000406980.2:n.*4377C>T
ENST00000439673.6:c.4901C>T	ENSP00000399232.2:p.Pro1634Leu
ENST00000497886.5:n.2933C>T
ENST00000568454.5:c.5042C>T	ENSP00000454487.1:p.Pro1681Leu
ENST00000569110.1:c.1392C>T
ENST00000569930.1:n.2325C>T
NM_000548.3:c.5210C>T , LRG_487t1:c.5210C>T	NP_000539.2:p.Pro1737Leu
NM_001077183.1:c.5009C>T	NP_001070651.1:p.Pro1670Leu
NM_001114382.1:c.5141C>T	NP_001107854.1:p.Pro1714Leu
XM_005255529.3:c.5081C>T	XP_005255586.2:p.Pro1694Leu
XM_005255531.3:c.5012C>T	XP_005255588.2:p.Pro1671Leu
XM_011522636.1:c.5264C>T	XP_011520938.1:p.Pro1755Leu
XM_011522637.1:c.5261C>T	XP_011520939.1:p.Pro1754Leu
XM_011522638.1:c.5153C>T	XP_011520940.1:p.Pro1718Leu
XM_011522639.1:c.5135C>T	XP_011520941.1:p.Pro1712Leu
XM_011522640.1:c.5132C>T	XP_011520942.1:p.Pro1711Leu
XM_011522641.1:c.4901C>T	XP_011520943.1:p.Pro1634Leu
NM_000548.4:c.5210C>T	NP_000539.2:p.Pro1737Leu
NM_001077183.2:c.5009C>T	NP_001070651.1:p.Pro1670Leu
NM_001114382.2:c.5141C>T	NP_001107854.1:p.Pro1714Leu
NM_001318827.1:c.4901C>T	NP_001305756.1:p.Pro1634Leu
NM_001318829.1:c.4865C>T	NP_001305758.1:p.Pro1622Leu
NM_001318831.1:c.4478C>T	NP_001305760.1:p.Pro1493Leu
NM_001318832.1:c.5042C>T	NP_001305761.1:p.Pro1681Leu
NM_001363528.1:c.5012C>T	NP_001350457.1:p.Pro1671Leu
NM_021055.2:c.5081C>T	NP_066399.2:p.Pro1694Leu
XM_005255531.4:c.5012C>T	XP_005255588.2:p.Pro1671Leu
XM_011522636.2:c.5264C>T	XP_011520938.1:p.Pro1755Leu
XM_011522637.2:c.5261C>T	XP_011520939.1:p.Pro1754Leu
XM_011522638.2:c.5426C>T	XP_011520940.2:p.Pro1809Leu
XM_011522639.2:c.5135C>T	XP_011520941.1:p.Pro1712Leu
XM_011522640.2:c.5132C>T	XP_011520942.1:p.Pro1711Leu
XM_017023615.1:c.5207C>T	XP_016879104.1:p.Pro1736Leu
XM_017023616.1:c.5078C>T	XP_016879105.1:p.Pro1693Leu
XM_017023617.1:c.5174C>T	XP_016879106.1:p.Pro1725Leu
XM_017023618.1:c.3920C>T	XP_016879107.1:p.Pro1307Leu
XM_024450413.1:c.5096C>T	XP_024306181.1:p.Pro1699Leu
NM_000548.5:c.5210C>T MANE Select	NP_000539.2:p.Pro1737Leu
NM_001370404.1:c.5078C>T	NP_001357333.1:p.Pro1693Leu
NM_001370405.1:c.5069C>T	NP_001357334.1:p.Pro1690Leu
NM_001077183.3:c.5009C>T	NP_001070651.1:p.Pro1670Leu
NM_001114382.3:c.5141C>T	NP_001107854.1:p.Pro1714Leu
NM_001318827.2:c.4901C>T	NP_001305756.1:p.Pro1634Leu
NM_001318829.2:c.4865C>T	NP_001305758.1:p.Pro1622Leu
NM_001318831.2:c.4478C>T	NP_001305760.1:p.Pro1493Leu
NM_001318832.2:c.5042C>T	NP_001305761.1:p.Pro1681Leu
NM_001363528.2:c.5012C>T	NP_001350457.1:p.Pro1671Leu
NM_021055.3:c.5081C>T	NP_066399.2:p.Pro1694Leu