Canonical Allele Identifier: CA022245

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49962
• ClinVar RCV Id: RCV000043229 ; RCV003311673
• dbSNP Id: rs45517413
• MyVariant Identifiers: chr16:g.2138298T>C (hg19) ; chr16:g.2088297T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088297T>C , CM000678.2:g.2088297T>C	GRCh38
NC_000016.9:g.2138298T>C , CM000678.1:g.2138298T>C	GRCh37
NC_000016.8:g.2078299T>C	NCBI36
NG_005895.1:g.43992T>C , LRG_487:g.43992T>C
NG_008617.1:g.54924A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3580T>C	ENSP00000455997.2:n.*3580T>C
ENST00000642206.2:c.5078T>C	ENSP00000495146.2:p.Leu1693Pro
ENST00000642365.2:c.5228T>C	ENSP00000495459.2:p.Leu1743Pro
ENST00000644417.2:c.*5744T>C	ENSP00000493912.2:n.*5744T>C
ENST00000646464.2:c.*7980T>C	ENSP00000496610.2:n.*7980T>C
ENST00000219476.9:c.5231T>C MANE Select	ENSP00000219476.3:p.Leu1744Pro
ENST00000350773.9:c.5162T>C	ENSP00000344383.4:p.Leu1721Pro
ENST00000401874.7:c.5030T>C	ENSP00000384468.2:p.Leu1677Pro
ENST00000568454.6:c.5063T>C	ENSP00000454487.1:p.Leu1688Pro
ENST00000569110.2:c.1454T>C
ENST00000569930.2:n.3113T>C
ENST00000642365.1:c.3885T>C
ENST00000642561.1:c.5090T>C	ENSP00000495099.1:p.Leu1697Pro
ENST00000642791.1:n.828T>C
ENST00000642797.1:c.5033T>C	ENSP00000493846.1:p.Leu1678Pro
ENST00000642936.1:c.5099T>C	ENSP00000494514.1:p.Leu1700Pro
ENST00000643088.1:c.5024T>C	ENSP00000494747.1:p.Leu1675Pro
ENST00000643426.1:n.2879T>C
ENST00000643946.1:c.5156T>C	ENSP00000495927.1:p.Leu1719Pro
ENST00000644043.1:c.5102T>C	ENSP00000496262.1:p.Leu1701Pro
ENST00000644329.1:c.5117T>C	ENSP00000496611.1:p.Leu1706Pro
ENST00000644335.1:c.5027T>C	ENSP00000496317.1:p.Leu1676Pro
ENST00000644399.1:c.5152T>C
ENST00000645024.1:n.3315T>C
ENST00000646388.1:c.5225T>C	ENSP00000495921.1:p.Leu1742Pro
ENST00000646634.1:n.4046T>C
ENST00000646674.1:n.2483T>C
ENST00000647042.1:n.2454T>C
ENST00000647180.1:n.2344T>C
ENST00000219476.7:c.5231T>C	ENSP00000219476.3:p.Leu1744Pro
ENST00000350773.8:c.5162T>C	ENSP00000344383.4:p.Leu1721Pro
ENST00000382538.10:c.4886T>C	ENSP00000371978.6:p.Leu1629Pro
ENST00000401874.6:c.5030T>C	ENSP00000384468.2:p.Leu1677Pro
ENST00000439117.6:c.*4398T>C	ENSP00000406980.2:n.*4398T>C
ENST00000439673.6:c.4922T>C	ENSP00000399232.2:p.Leu1641Pro
ENST00000497886.5:n.2954T>C
ENST00000568454.5:c.5063T>C	ENSP00000454487.1:p.Leu1688Pro
ENST00000569110.1:c.1413T>C
ENST00000569930.1:n.2346T>C
NM_000548.3:c.5231T>C , LRG_487t1:c.5231T>C	NP_000539.2:p.Leu1744Pro
NM_001077183.1:c.5030T>C	NP_001070651.1:p.Leu1677Pro
NM_001114382.1:c.5162T>C	NP_001107854.1:p.Leu1721Pro
XM_005255529.3:c.5102T>C	XP_005255586.2:p.Leu1701Pro
XM_005255531.3:c.5033T>C	XP_005255588.2:p.Leu1678Pro
XM_011522636.1:c.5285T>C	XP_011520938.1:p.Leu1762Pro
XM_011522637.1:c.5282T>C	XP_011520939.1:p.Leu1761Pro
XM_011522638.1:c.5174T>C	XP_011520940.1:p.Leu1725Pro
XM_011522639.1:c.5156T>C	XP_011520941.1:p.Leu1719Pro
XM_011522640.1:c.5153T>C	XP_011520942.1:p.Leu1718Pro
XM_011522641.1:c.4922T>C	XP_011520943.1:p.Leu1641Pro
NM_000548.4:c.5231T>C	NP_000539.2:p.Leu1744Pro
NM_001077183.2:c.5030T>C	NP_001070651.1:p.Leu1677Pro
NM_001114382.2:c.5162T>C	NP_001107854.1:p.Leu1721Pro
NM_001318827.1:c.4922T>C	NP_001305756.1:p.Leu1641Pro
NM_001318829.1:c.4886T>C	NP_001305758.1:p.Leu1629Pro
NM_001318831.1:c.4499T>C	NP_001305760.1:p.Leu1500Pro
NM_001318832.1:c.5063T>C	NP_001305761.1:p.Leu1688Pro
NM_001363528.1:c.5033T>C	NP_001350457.1:p.Leu1678Pro
NM_021055.2:c.5102T>C	NP_066399.2:p.Leu1701Pro
XM_005255531.4:c.5033T>C	XP_005255588.2:p.Leu1678Pro
XM_011522636.2:c.5285T>C	XP_011520938.1:p.Leu1762Pro
XM_011522637.2:c.5282T>C	XP_011520939.1:p.Leu1761Pro
XM_011522638.2:c.5447T>C	XP_011520940.2:p.Leu1816Pro
XM_011522639.2:c.5156T>C	XP_011520941.1:p.Leu1719Pro
XM_011522640.2:c.5153T>C	XP_011520942.1:p.Leu1718Pro
XM_017023615.1:c.5228T>C	XP_016879104.1:p.Leu1743Pro
XM_017023616.1:c.5099T>C	XP_016879105.1:p.Leu1700Pro
XM_017023617.1:c.5195T>C	XP_016879106.1:p.Leu1732Pro
XM_017023618.1:c.3941T>C	XP_016879107.1:p.Leu1314Pro
XM_024450413.1:c.5117T>C	XP_024306181.1:p.Leu1706Pro
NM_000548.5:c.5231T>C MANE Select	NP_000539.2:p.Leu1744Pro
NM_001370404.1:c.5099T>C	NP_001357333.1:p.Leu1700Pro
NM_001370405.1:c.5090T>C	NP_001357334.1:p.Leu1697Pro
NM_001077183.3:c.5030T>C	NP_001070651.1:p.Leu1677Pro
NM_001114382.3:c.5162T>C	NP_001107854.1:p.Leu1721Pro
NM_001318827.2:c.4922T>C	NP_001305756.1:p.Leu1641Pro
NM_001318829.2:c.4886T>C	NP_001305758.1:p.Leu1629Pro
NM_001318831.2:c.4499T>C	NP_001305760.1:p.Leu1500Pro
NM_001318832.2:c.5063T>C	NP_001305761.1:p.Leu1688Pro
NM_001363528.2:c.5033T>C	NP_001350457.1:p.Leu1678Pro
NM_021055.3:c.5102T>C	NP_066399.2:p.Leu1701Pro