Canonical Allele Identifier: CA022207

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49834
• ClinVar RCV Id: RCV000043100 ; RCV001249601
• dbSNP Id: rs45517412
• MyVariant Identifiers: chr16:g.2138294C>G (hg19) ; chr16:g.2088293C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088293C>G , CM000678.2:g.2088293C>G	GRCh38
NC_000016.9:g.2138294C>G , CM000678.1:g.2138294C>G	GRCh37
NC_000016.8:g.2078295C>G	NCBI36
NG_005895.1:g.43988C>G , LRG_487:g.43988C>G
NG_008617.1:g.54928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3576C>G	ENSP00000455997.2:n.*3576C>G
ENST00000642206.2:c.5074C>G	ENSP00000495146.2:p.Arg1692Gly
ENST00000642365.2:c.5224C>G	ENSP00000495459.2:p.Arg1742Gly
ENST00000644417.2:c.*5740C>G	ENSP00000493912.2:n.*5740C>G
ENST00000646464.2:c.*7976C>G	ENSP00000496610.2:n.*7976C>G
ENST00000219476.9:c.5227C>G MANE Select	ENSP00000219476.3:p.Arg1743Gly
ENST00000350773.9:c.5158C>G	ENSP00000344383.4:p.Arg1720Gly
ENST00000401874.7:c.5026C>G	ENSP00000384468.2:p.Arg1676Gly
ENST00000568454.6:c.5059C>G	ENSP00000454487.1:p.Arg1687Gly
ENST00000569110.2:c.1450C>G
ENST00000569930.2:n.3109C>G
ENST00000642365.1:c.3881C>G
ENST00000642561.1:c.5086C>G	ENSP00000495099.1:p.Arg1696Gly
ENST00000642791.1:n.824C>G
ENST00000642797.1:c.5029C>G	ENSP00000493846.1:p.Arg1677Gly
ENST00000642936.1:c.5095C>G	ENSP00000494514.1:p.Arg1699Gly
ENST00000643088.1:c.5020C>G	ENSP00000494747.1:p.Arg1674Gly
ENST00000643426.1:n.2875C>G
ENST00000643946.1:c.5152C>G	ENSP00000495927.1:p.Arg1718Gly
ENST00000644043.1:c.5098C>G	ENSP00000496262.1:p.Arg1700Gly
ENST00000644329.1:c.5113C>G	ENSP00000496611.1:p.Arg1705Gly
ENST00000644335.1:c.5023C>G	ENSP00000496317.1:p.Arg1675Gly
ENST00000644399.1:c.5148C>G
ENST00000645024.1:n.3311C>G
ENST00000646388.1:c.5221C>G	ENSP00000495921.1:p.Arg1741Gly
ENST00000646634.1:n.4042C>G
ENST00000646674.1:n.2479C>G
ENST00000647042.1:n.2450C>G
ENST00000647180.1:n.2340C>G
ENST00000219476.7:c.5227C>G	ENSP00000219476.3:p.Arg1743Gly
ENST00000350773.8:c.5158C>G	ENSP00000344383.4:p.Arg1720Gly
ENST00000382538.10:c.4882C>G	ENSP00000371978.6:p.Arg1628Gly
ENST00000401874.6:c.5026C>G	ENSP00000384468.2:p.Arg1676Gly
ENST00000439117.6:c.*4394C>G	ENSP00000406980.2:n.*4394C>G
ENST00000439673.6:c.4918C>G	ENSP00000399232.2:p.Arg1640Gly
ENST00000497886.5:n.2950C>G
ENST00000568454.5:c.5059C>G	ENSP00000454487.1:p.Arg1687Gly
ENST00000569110.1:c.1409C>G
ENST00000569930.1:n.2342C>G
NM_000548.3:c.5227C>G , LRG_487t1:c.5227C>G	NP_000539.2:p.Arg1743Gly
NM_001077183.1:c.5026C>G	NP_001070651.1:p.Arg1676Gly
NM_001114382.1:c.5158C>G	NP_001107854.1:p.Arg1720Gly
XM_005255529.3:c.5098C>G	XP_005255586.2:p.Arg1700Gly
XM_005255531.3:c.5029C>G	XP_005255588.2:p.Arg1677Gly
XM_011522636.1:c.5281C>G	XP_011520938.1:p.Arg1761Gly
XM_011522637.1:c.5278C>G	XP_011520939.1:p.Arg1760Gly
XM_011522638.1:c.5170C>G	XP_011520940.1:p.Arg1724Gly
XM_011522639.1:c.5152C>G	XP_011520941.1:p.Arg1718Gly
XM_011522640.1:c.5149C>G	XP_011520942.1:p.Arg1717Gly
XM_011522641.1:c.4918C>G	XP_011520943.1:p.Arg1640Gly
NM_000548.4:c.5227C>G	NP_000539.2:p.Arg1743Gly
NM_001077183.2:c.5026C>G	NP_001070651.1:p.Arg1676Gly
NM_001114382.2:c.5158C>G	NP_001107854.1:p.Arg1720Gly
NM_001318827.1:c.4918C>G	NP_001305756.1:p.Arg1640Gly
NM_001318829.1:c.4882C>G	NP_001305758.1:p.Arg1628Gly
NM_001318831.1:c.4495C>G	NP_001305760.1:p.Arg1499Gly
NM_001318832.1:c.5059C>G	NP_001305761.1:p.Arg1687Gly
NM_001363528.1:c.5029C>G	NP_001350457.1:p.Arg1677Gly
NM_021055.2:c.5098C>G	NP_066399.2:p.Arg1700Gly
XM_005255531.4:c.5029C>G	XP_005255588.2:p.Arg1677Gly
XM_011522636.2:c.5281C>G	XP_011520938.1:p.Arg1761Gly
XM_011522637.2:c.5278C>G	XP_011520939.1:p.Arg1760Gly
XM_011522638.2:c.5443C>G	XP_011520940.2:p.Arg1815Gly
XM_011522639.2:c.5152C>G	XP_011520941.1:p.Arg1718Gly
XM_011522640.2:c.5149C>G	XP_011520942.1:p.Arg1717Gly
XM_017023615.1:c.5224C>G	XP_016879104.1:p.Arg1742Gly
XM_017023616.1:c.5095C>G	XP_016879105.1:p.Arg1699Gly
XM_017023617.1:c.5191C>G	XP_016879106.1:p.Arg1731Gly
XM_017023618.1:c.3937C>G	XP_016879107.1:p.Arg1313Gly
XM_024450413.1:c.5113C>G	XP_024306181.1:p.Arg1705Gly
NM_000548.5:c.5227C>G MANE Select	NP_000539.2:p.Arg1743Gly
NM_001370404.1:c.5095C>G	NP_001357333.1:p.Arg1699Gly
NM_001370405.1:c.5086C>G	NP_001357334.1:p.Arg1696Gly
NM_001077183.3:c.5026C>G	NP_001070651.1:p.Arg1676Gly
NM_001114382.3:c.5158C>G	NP_001107854.1:p.Arg1720Gly
NM_001318827.2:c.4918C>G	NP_001305756.1:p.Arg1640Gly
NM_001318829.2:c.4882C>G	NP_001305758.1:p.Arg1628Gly
NM_001318831.2:c.4495C>G	NP_001305760.1:p.Arg1499Gly
NM_001318832.2:c.5059C>G	NP_001305761.1:p.Arg1687Gly
NM_001363528.2:c.5029C>G	NP_001350457.1:p.Arg1677Gly
NM_021055.3:c.5098C>G	NP_066399.2:p.Arg1700Gly