Canonical Allele Identifier: CA020963

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49956
• ClinVar RCV Id: RCV000043223 ; RCV002298454
• dbSNP Id: rs45503995
• MyVariant Identifiers: chr16:g.2136266G>A (hg19) ; chr16:g.2086265G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086265G>A , CM000678.2:g.2086265G>A	GRCh38
NC_000016.9:g.2136266G>A , CM000678.1:g.2136266G>A	GRCh37
NC_000016.8:g.2076267G>A	NCBI36
NG_005895.1:g.41960G>A , LRG_487:g.41960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3084G>A	ENSP00000455997.2:n.*3084G>A
ENST00000642206.2:c.4582G>A	ENSP00000495146.2:p.Gly1528Ser
ENST00000642365.2:c.4732G>A	ENSP00000495459.2:p.Gly1578Ser
ENST00000644417.2:c.*5248G>A	ENSP00000493912.2:n.*5248G>A
ENST00000646464.2:c.*7484G>A	ENSP00000496610.2:n.*7484G>A
ENST00000219476.9:c.4735G>A MANE Select	ENSP00000219476.3:p.Gly1579Ser
ENST00000350773.9:c.4666G>A	ENSP00000344383.4:p.Gly1556Ser
ENST00000401874.7:c.4534G>A	ENSP00000384468.2:p.Gly1512Ser
ENST00000568454.6:c.4567G>A	ENSP00000454487.1:p.Gly1523Ser
ENST00000569110.2:c.958G>A
ENST00000569930.2:n.2617G>A
ENST00000642365.1:c.3389G>A
ENST00000642561.1:c.4606G>A	ENSP00000495099.1:p.Gly1536Ser
ENST00000642728.1:n.917G>A
ENST00000642791.1:n.332G>A
ENST00000642797.1:c.4537G>A	ENSP00000493846.1:p.Gly1513Ser
ENST00000642936.1:c.4603G>A	ENSP00000494514.1:p.Gly1535Ser
ENST00000643088.1:c.4528G>A	ENSP00000494747.1:p.Gly1510Ser
ENST00000643177.1:n.749G>A
ENST00000643426.1:n.2383G>A
ENST00000643946.1:c.4660G>A	ENSP00000495927.1:p.Gly1554Ser
ENST00000644043.1:c.4606G>A	ENSP00000496262.1:p.Gly1536Ser
ENST00000644278.1:n.217G>A
ENST00000644329.1:c.4534G>A	ENSP00000496611.1:p.Gly1512Ser
ENST00000644335.1:c.4531G>A	ENSP00000496317.1:p.Gly1511Ser
ENST00000644399.1:c.4656G>A
ENST00000645024.1:n.2819G>A
ENST00000646388.1:c.4729G>A	ENSP00000495921.1:p.Gly1577Ser
ENST00000646634.1:n.3550G>A
ENST00000646674.1:n.1987G>A
ENST00000647042.1:n.1958G>A
ENST00000647180.1:n.1848G>A
ENST00000219476.7:c.4735G>A	ENSP00000219476.3:p.Gly1579Ser
ENST00000350773.8:c.4666G>A	ENSP00000344383.4:p.Gly1556Ser
ENST00000382538.10:c.4390G>A	ENSP00000371978.6:p.Gly1464Ser
ENST00000401874.6:c.4534G>A	ENSP00000384468.2:p.Gly1512Ser
ENST00000439117.6:c.*3902G>A	ENSP00000406980.2:n.*3902G>A
ENST00000439673.6:c.4426G>A	ENSP00000399232.2:p.Gly1476Ser
ENST00000497886.5:n.2493G>A
ENST00000568454.5:c.4567G>A	ENSP00000454487.1:p.Gly1523Ser
ENST00000569110.1:c.917G>A
ENST00000569930.1:n.1850G>A
NM_000548.3:c.4735G>A , LRG_487t1:c.4735G>A	NP_000539.2:p.Gly1579Ser
NM_001077183.1:c.4534G>A	NP_001070651.1:p.Gly1512Ser
NM_001114382.1:c.4666G>A	NP_001107854.1:p.Gly1556Ser
XM_005255529.3:c.4606G>A	XP_005255586.2:p.Gly1536Ser
XM_005255531.3:c.4537G>A	XP_005255588.2:p.Gly1513Ser
XM_011522636.1:c.4789G>A	XP_011520938.1:p.Gly1597Ser
XM_011522637.1:c.4786G>A	XP_011520939.1:p.Gly1596Ser
XM_011522638.1:c.4678G>A	XP_011520940.1:p.Gly1560Ser
XM_011522639.1:c.4660G>A	XP_011520941.1:p.Gly1554Ser
XM_011522640.1:c.4657G>A	XP_011520942.1:p.Gly1553Ser
XM_011522641.1:c.4426G>A	XP_011520943.1:p.Gly1476Ser
NM_000548.4:c.4735G>A	NP_000539.2:p.Gly1579Ser
NM_001077183.2:c.4534G>A	NP_001070651.1:p.Gly1512Ser
NM_001114382.2:c.4666G>A	NP_001107854.1:p.Gly1556Ser
NM_001318827.1:c.4426G>A	NP_001305756.1:p.Gly1476Ser
NM_001318829.1:c.4390G>A	NP_001305758.1:p.Gly1464Ser
NM_001318831.1:c.4003G>A	NP_001305760.1:p.Gly1335Ser
NM_001318832.1:c.4567G>A	NP_001305761.1:p.Gly1523Ser
NM_001363528.1:c.4537G>A	NP_001350457.1:p.Gly1513Ser
NM_021055.2:c.4606G>A	NP_066399.2:p.Gly1536Ser
XM_005255531.4:c.4537G>A	XP_005255588.2:p.Gly1513Ser
XM_011522636.2:c.4789G>A	XP_011520938.1:p.Gly1597Ser
XM_011522637.2:c.4786G>A	XP_011520939.1:p.Gly1596Ser
XM_011522638.2:c.4951G>A	XP_011520940.2:p.Gly1651Ser
XM_011522639.2:c.4660G>A	XP_011520941.1:p.Gly1554Ser
XM_011522640.2:c.4657G>A	XP_011520942.1:p.Gly1553Ser
XM_017023615.1:c.4732G>A	XP_016879104.1:p.Gly1578Ser
XM_017023616.1:c.4603G>A	XP_016879105.1:p.Gly1535Ser
XM_017023617.1:c.4699G>A	XP_016879106.1:p.Gly1567Ser
XM_017023618.1:c.3445G>A	XP_016879107.1:p.Gly1149Ser
XM_024450413.1:c.4534G>A	XP_024306181.1:p.Gly1512Ser
NM_000548.5:c.4735G>A MANE Select	NP_000539.2:p.Gly1579Ser
NM_001370404.1:c.4603G>A	NP_001357333.1:p.Gly1535Ser
NM_001370405.1:c.4606G>A	NP_001357334.1:p.Gly1536Ser
NM_001077183.3:c.4534G>A	NP_001070651.1:p.Gly1512Ser
NM_001114382.3:c.4666G>A	NP_001107854.1:p.Gly1556Ser
NM_001318827.2:c.4426G>A	NP_001305756.1:p.Gly1476Ser
NM_001318829.2:c.4390G>A	NP_001305758.1:p.Gly1464Ser
NM_001318831.2:c.4003G>A	NP_001305760.1:p.Gly1335Ser
NM_001318832.2:c.4567G>A	NP_001305761.1:p.Gly1523Ser
NM_001363528.2:c.4537G>A	NP_001350457.1:p.Gly1513Ser
NM_021055.3:c.4606G>A	NP_066399.2:p.Gly1536Ser