Canonical Allele Identifier: CA022177

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49363
• ClinVar RCV Id: RCV000042623 ; RCV000493371 ; RCV000802438
• dbSNP Id: rs45517411
• MyVariant Identifiers: chr16:g.2138287G>A (hg19) ; chr16:g.2088286G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088286G>A , CM000678.2:g.2088286G>A	GRCh38
NC_000016.9:g.2138287G>A , CM000678.1:g.2138287G>A	GRCh37
NC_000016.8:g.2078288G>A	NCBI36
NG_005895.1:g.43981G>A , LRG_487:g.43981G>A
NG_008617.1:g.54935C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3569G>A	ENSP00000455997.2:n.*3569G>A
ENST00000642206.2:c.5067G>A	ENSP00000495146.2:p.Trp1689Ter
ENST00000642365.2:c.5217G>A	ENSP00000495459.2:p.Trp1739Ter
ENST00000644417.2:c.*5733G>A	ENSP00000493912.2:n.*5733G>A
ENST00000646464.2:c.*7969G>A	ENSP00000496610.2:n.*7969G>A
ENST00000219476.9:c.5220G>A MANE Select	ENSP00000219476.3:p.Trp1740Ter
ENST00000350773.9:c.5151G>A	ENSP00000344383.4:p.Trp1717Ter
ENST00000401874.7:c.5019G>A	ENSP00000384468.2:p.Trp1673Ter
ENST00000568454.6:c.5052G>A	ENSP00000454487.1:p.Trp1684Ter
ENST00000569110.2:c.1443G>A
ENST00000569930.2:n.3102G>A
ENST00000642365.1:c.3874G>A
ENST00000642561.1:c.5079G>A	ENSP00000495099.1:p.Trp1693Ter
ENST00000642791.1:n.817G>A
ENST00000642797.1:c.5022G>A	ENSP00000493846.1:p.Trp1674Ter
ENST00000642936.1:c.5088G>A	ENSP00000494514.1:p.Trp1696Ter
ENST00000643088.1:c.5013G>A	ENSP00000494747.1:p.Trp1671Ter
ENST00000643426.1:n.2868G>A
ENST00000643946.1:c.5145G>A	ENSP00000495927.1:p.Trp1715Ter
ENST00000644043.1:c.5091G>A	ENSP00000496262.1:p.Trp1697Ter
ENST00000644329.1:c.5106G>A	ENSP00000496611.1:p.Trp1702Ter
ENST00000644335.1:c.5016G>A	ENSP00000496317.1:p.Trp1672Ter
ENST00000644399.1:c.5141G>A
ENST00000645024.1:n.3304G>A
ENST00000646388.1:c.5214G>A	ENSP00000495921.1:p.Trp1738Ter
ENST00000646634.1:n.4035G>A
ENST00000646674.1:n.2472G>A
ENST00000647042.1:n.2443G>A
ENST00000647180.1:n.2333G>A
ENST00000219476.7:c.5220G>A	ENSP00000219476.3:p.Trp1740Ter
ENST00000350773.8:c.5151G>A	ENSP00000344383.4:p.Trp1717Ter
ENST00000382538.10:c.4875G>A	ENSP00000371978.6:p.Trp1625Ter
ENST00000401874.6:c.5019G>A	ENSP00000384468.2:p.Trp1673Ter
ENST00000439117.6:c.*4387G>A	ENSP00000406980.2:n.*4387G>A
ENST00000439673.6:c.4911G>A	ENSP00000399232.2:p.Trp1637Ter
ENST00000497886.5:n.2943G>A
ENST00000568454.5:c.5052G>A	ENSP00000454487.1:p.Trp1684Ter
ENST00000569110.1:c.1402G>A
ENST00000569930.1:n.2335G>A
NM_000548.3:c.5220G>A , LRG_487t1:c.5220G>A	NP_000539.2:p.Trp1740Ter
NM_001077183.1:c.5019G>A	NP_001070651.1:p.Trp1673Ter
NM_001114382.1:c.5151G>A	NP_001107854.1:p.Trp1717Ter
XM_005255529.3:c.5091G>A	XP_005255586.2:p.Trp1697Ter
XM_005255531.3:c.5022G>A	XP_005255588.2:p.Trp1674Ter
XM_011522636.1:c.5274G>A	XP_011520938.1:p.Trp1758Ter
XM_011522637.1:c.5271G>A	XP_011520939.1:p.Trp1757Ter
XM_011522638.1:c.5163G>A	XP_011520940.1:p.Trp1721Ter
XM_011522639.1:c.5145G>A	XP_011520941.1:p.Trp1715Ter
XM_011522640.1:c.5142G>A	XP_011520942.1:p.Trp1714Ter
XM_011522641.1:c.4911G>A	XP_011520943.1:p.Trp1637Ter
NM_000548.4:c.5220G>A	NP_000539.2:p.Trp1740Ter
NM_001077183.2:c.5019G>A	NP_001070651.1:p.Trp1673Ter
NM_001114382.2:c.5151G>A	NP_001107854.1:p.Trp1717Ter
NM_001318827.1:c.4911G>A	NP_001305756.1:p.Trp1637Ter
NM_001318829.1:c.4875G>A	NP_001305758.1:p.Trp1625Ter
NM_001318831.1:c.4488G>A	NP_001305760.1:p.Trp1496Ter
NM_001318832.1:c.5052G>A	NP_001305761.1:p.Trp1684Ter
NM_001363528.1:c.5022G>A	NP_001350457.1:p.Trp1674Ter
NM_021055.2:c.5091G>A	NP_066399.2:p.Trp1697Ter
XM_005255531.4:c.5022G>A	XP_005255588.2:p.Trp1674Ter
XM_011522636.2:c.5274G>A	XP_011520938.1:p.Trp1758Ter
XM_011522637.2:c.5271G>A	XP_011520939.1:p.Trp1757Ter
XM_011522638.2:c.5436G>A	XP_011520940.2:p.Trp1812Ter
XM_011522639.2:c.5145G>A	XP_011520941.1:p.Trp1715Ter
XM_011522640.2:c.5142G>A	XP_011520942.1:p.Trp1714Ter
XM_017023615.1:c.5217G>A	XP_016879104.1:p.Trp1739Ter
XM_017023616.1:c.5088G>A	XP_016879105.1:p.Trp1696Ter
XM_017023617.1:c.5184G>A	XP_016879106.1:p.Trp1728Ter
XM_017023618.1:c.3930G>A	XP_016879107.1:p.Trp1310Ter
XM_024450413.1:c.5106G>A	XP_024306181.1:p.Trp1702Ter
NM_000548.5:c.5220G>A MANE Select	NP_000539.2:p.Trp1740Ter
NM_001370404.1:c.5088G>A	NP_001357333.1:p.Trp1696Ter
NM_001370405.1:c.5079G>A	NP_001357334.1:p.Trp1693Ter
NM_001077183.3:c.5019G>A	NP_001070651.1:p.Trp1673Ter
NM_001114382.3:c.5151G>A	NP_001107854.1:p.Trp1717Ter
NM_001318827.2:c.4911G>A	NP_001305756.1:p.Trp1637Ter
NM_001318829.2:c.4875G>A	NP_001305758.1:p.Trp1625Ter
NM_001318831.2:c.4488G>A	NP_001305760.1:p.Trp1496Ter
NM_001318832.2:c.5052G>A	NP_001305761.1:p.Trp1684Ter
NM_001363528.2:c.5022G>A	NP_001350457.1:p.Trp1674Ter
NM_021055.3:c.5091G>A	NP_066399.2:p.Trp1697Ter