Canonical Allele Identifier: CA054421

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1427563
• ClinVar RCV Id: RCV001945952
• dbSNP Id: rs746160626
• ExAC: 16:2138274 A / C
• gnomAD v2: 16-2138274-A-C
• gnomAD v4: 16-2088273-A-C
• MyVariant Identifiers: chr16:g.2138274A>C (hg19) ; chr16:g.2088273A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088273A>C , CM000678.2:g.2088273A>C	GRCh38
NC_000016.9:g.2138274A>C , CM000678.1:g.2138274A>C	GRCh37
NC_000016.8:g.2078275A>C	NCBI36
NG_005895.1:g.43968A>C , LRG_487:g.43968A>C
NG_008617.1:g.54948T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3556A>C	ENSP00000455997.2:n.*3556A>C
ENST00000642206.2:c.5054A>C	ENSP00000495146.2:p.Tyr1685Ser
ENST00000642365.2:c.5204A>C	ENSP00000495459.2:p.Tyr1735Ser
ENST00000644417.2:c.*5720A>C	ENSP00000493912.2:n.*5720A>C
ENST00000646464.2:c.*7956A>C	ENSP00000496610.2:n.*7956A>C
ENST00000219476.9:c.5207A>C MANE Select	ENSP00000219476.3:p.Tyr1736Ser
ENST00000350773.9:c.5138A>C	ENSP00000344383.4:p.Tyr1713Ser
ENST00000401874.7:c.5006A>C	ENSP00000384468.2:p.Tyr1669Ser
ENST00000568454.6:c.5039A>C	ENSP00000454487.1:p.Tyr1680Ser
ENST00000569110.2:c.1430A>C
ENST00000569930.2:n.3089A>C
ENST00000642365.1:c.3861A>C
ENST00000642561.1:c.5066A>C	ENSP00000495099.1:p.Tyr1689Ser
ENST00000642791.1:n.804A>C
ENST00000642797.1:c.5009A>C	ENSP00000493846.1:p.Tyr1670Ser
ENST00000642936.1:c.5075A>C	ENSP00000494514.1:p.Tyr1692Ser
ENST00000643088.1:c.5000A>C	ENSP00000494747.1:p.Tyr1667Ser
ENST00000643426.1:n.2855A>C
ENST00000643946.1:c.5132A>C	ENSP00000495927.1:p.Tyr1711Ser
ENST00000644043.1:c.5078A>C	ENSP00000496262.1:p.Tyr1693Ser
ENST00000644329.1:c.5093A>C	ENSP00000496611.1:p.Tyr1698Ser
ENST00000644335.1:c.5003A>C	ENSP00000496317.1:p.Tyr1668Ser
ENST00000644399.1:c.5128A>C
ENST00000645024.1:n.3291A>C
ENST00000646388.1:c.5201A>C	ENSP00000495921.1:p.Tyr1734Ser
ENST00000646634.1:n.4022A>C
ENST00000646674.1:n.2459A>C
ENST00000647042.1:n.2430A>C
ENST00000647180.1:n.2320A>C
ENST00000219476.7:c.5207A>C	ENSP00000219476.3:p.Tyr1736Ser
ENST00000350773.8:c.5138A>C	ENSP00000344383.4:p.Tyr1713Ser
ENST00000382538.10:c.4862A>C	ENSP00000371978.6:p.Tyr1621Ser
ENST00000401874.6:c.5006A>C	ENSP00000384468.2:p.Tyr1669Ser
ENST00000439117.6:c.*4374A>C	ENSP00000406980.2:n.*4374A>C
ENST00000439673.6:c.4898A>C	ENSP00000399232.2:p.Tyr1633Ser
ENST00000497886.5:n.2930A>C
ENST00000568454.5:c.5039A>C	ENSP00000454487.1:p.Tyr1680Ser
ENST00000569110.1:c.1389A>C
ENST00000569930.1:n.2322A>C
NM_000548.3:c.5207A>C , LRG_487t1:c.5207A>C	NP_000539.2:p.Tyr1736Ser
NM_001077183.1:c.5006A>C	NP_001070651.1:p.Tyr1669Ser
NM_001114382.1:c.5138A>C	NP_001107854.1:p.Tyr1713Ser
XM_005255529.3:c.5078A>C	XP_005255586.2:p.Tyr1693Ser
XM_005255531.3:c.5009A>C	XP_005255588.2:p.Tyr1670Ser
XM_011522636.1:c.5261A>C	XP_011520938.1:p.Tyr1754Ser
XM_011522637.1:c.5258A>C	XP_011520939.1:p.Tyr1753Ser
XM_011522638.1:c.5150A>C	XP_011520940.1:p.Tyr1717Ser
XM_011522639.1:c.5132A>C	XP_011520941.1:p.Tyr1711Ser
XM_011522640.1:c.5129A>C	XP_011520942.1:p.Tyr1710Ser
XM_011522641.1:c.4898A>C	XP_011520943.1:p.Tyr1633Ser
NM_000548.4:c.5207A>C	NP_000539.2:p.Tyr1736Ser
NM_001077183.2:c.5006A>C	NP_001070651.1:p.Tyr1669Ser
NM_001114382.2:c.5138A>C	NP_001107854.1:p.Tyr1713Ser
NM_001318827.1:c.4898A>C	NP_001305756.1:p.Tyr1633Ser
NM_001318829.1:c.4862A>C	NP_001305758.1:p.Tyr1621Ser
NM_001318831.1:c.4475A>C	NP_001305760.1:p.Tyr1492Ser
NM_001318832.1:c.5039A>C	NP_001305761.1:p.Tyr1680Ser
NM_001363528.1:c.5009A>C	NP_001350457.1:p.Tyr1670Ser
NM_021055.2:c.5078A>C	NP_066399.2:p.Tyr1693Ser
XM_005255531.4:c.5009A>C	XP_005255588.2:p.Tyr1670Ser
XM_011522636.2:c.5261A>C	XP_011520938.1:p.Tyr1754Ser
XM_011522637.2:c.5258A>C	XP_011520939.1:p.Tyr1753Ser
XM_011522638.2:c.5423A>C	XP_011520940.2:p.Tyr1808Ser
XM_011522639.2:c.5132A>C	XP_011520941.1:p.Tyr1711Ser
XM_011522640.2:c.5129A>C	XP_011520942.1:p.Tyr1710Ser
XM_017023615.1:c.5204A>C	XP_016879104.1:p.Tyr1735Ser
XM_017023616.1:c.5075A>C	XP_016879105.1:p.Tyr1692Ser
XM_017023617.1:c.5171A>C	XP_016879106.1:p.Tyr1724Ser
XM_017023618.1:c.3917A>C	XP_016879107.1:p.Tyr1306Ser
XM_024450413.1:c.5093A>C	XP_024306181.1:p.Tyr1698Ser
NM_000548.5:c.5207A>C MANE Select	NP_000539.2:p.Tyr1736Ser
NM_001370404.1:c.5075A>C	NP_001357333.1:p.Tyr1692Ser
NM_001370405.1:c.5066A>C	NP_001357334.1:p.Tyr1689Ser
NM_001077183.3:c.5006A>C	NP_001070651.1:p.Tyr1669Ser
NM_001114382.3:c.5138A>C	NP_001107854.1:p.Tyr1713Ser
NM_001318827.2:c.4898A>C	NP_001305756.1:p.Tyr1633Ser
NM_001318829.2:c.4862A>C	NP_001305758.1:p.Tyr1621Ser
NM_001318831.2:c.4475A>C	NP_001305760.1:p.Tyr1492Ser
NM_001318832.2:c.5039A>C	NP_001305761.1:p.Tyr1680Ser
NM_001363528.2:c.5009A>C	NP_001350457.1:p.Tyr1670Ser
NM_021055.3:c.5078A>C	NP_066399.2:p.Tyr1693Ser