Canonical Allele Identifier: CA394314077

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138245T>G (hg19) ; chr16:g.2088244T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088244T>G , CM000678.2:g.2088244T>G	GRCh38
NC_000016.9:g.2138245T>G , CM000678.1:g.2138245T>G	GRCh37
NC_000016.8:g.2078246T>G	NCBI36
NG_005895.1:g.43939T>G , LRG_487:g.43939T>G
NG_008617.1:g.54977A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3527T>G	ENSP00000455997.2:n.*3527T>G
ENST00000642206.2:c.5025T>G	ENSP00000495146.2:p.His1675Gln
ENST00000642365.2:c.5175T>G	ENSP00000495459.2:p.His1725Gln
ENST00000644417.2:c.*5691T>G	ENSP00000493912.2:n.*5691T>G
ENST00000646464.2:c.*7927T>G	ENSP00000496610.2:n.*7927T>G
ENST00000219476.9:c.5178T>G MANE Select	ENSP00000219476.3:p.His1726Gln
ENST00000350773.9:c.5109T>G	ENSP00000344383.4:p.His1703Gln
ENST00000401874.7:c.4977T>G	ENSP00000384468.2:p.His1659Gln
ENST00000568454.6:c.5010T>G	ENSP00000454487.1:p.His1670Gln
ENST00000569110.2:c.1401T>G
ENST00000569930.2:n.3060T>G
ENST00000642365.1:c.3832T>G
ENST00000642561.1:c.5037T>G	ENSP00000495099.1:p.His1679Gln
ENST00000642791.1:n.775T>G
ENST00000642797.1:c.4980T>G	ENSP00000493846.1:p.His1660Gln
ENST00000642936.1:c.5046T>G	ENSP00000494514.1:p.His1682Gln
ENST00000643088.1:c.4971T>G	ENSP00000494747.1:p.His1657Gln
ENST00000643426.1:n.2826T>G
ENST00000643946.1:c.5103T>G	ENSP00000495927.1:p.His1701Gln
ENST00000644043.1:c.5049T>G	ENSP00000496262.1:p.His1683Gln
ENST00000644329.1:c.5064T>G	ENSP00000496611.1:p.His1688Gln
ENST00000644335.1:c.4974T>G	ENSP00000496317.1:p.His1658Gln
ENST00000644399.1:c.5099T>G
ENST00000645024.1:n.3262T>G
ENST00000646388.1:c.5172T>G	ENSP00000495921.1:p.His1724Gln
ENST00000646634.1:n.3993T>G
ENST00000646674.1:n.2430T>G
ENST00000647042.1:n.2401T>G
ENST00000647180.1:n.2291T>G
ENST00000219476.7:c.5178T>G	ENSP00000219476.3:p.His1726Gln
ENST00000350773.8:c.5109T>G	ENSP00000344383.4:p.His1703Gln
ENST00000382538.10:c.4833T>G	ENSP00000371978.6:p.His1611Gln
ENST00000401874.6:c.4977T>G	ENSP00000384468.2:p.His1659Gln
ENST00000439117.6:c.*4345T>G	ENSP00000406980.2:n.*4345T>G
ENST00000439673.6:c.4869T>G	ENSP00000399232.2:p.His1623Gln
ENST00000497886.5:n.2901T>G
ENST00000568454.5:c.5010T>G	ENSP00000454487.1:p.His1670Gln
ENST00000569110.1:c.1360T>G
ENST00000569930.1:n.2293T>G
NM_000548.3:c.5178T>G , LRG_487t1:c.5178T>G	NP_000539.2:p.His1726Gln
NM_001077183.1:c.4977T>G	NP_001070651.1:p.His1659Gln
NM_001114382.1:c.5109T>G	NP_001107854.1:p.His1703Gln
XM_005255529.3:c.5049T>G	XP_005255586.2:p.His1683Gln
XM_005255531.3:c.4980T>G	XP_005255588.2:p.His1660Gln
XM_011522636.1:c.5232T>G	XP_011520938.1:p.His1744Gln
XM_011522637.1:c.5229T>G	XP_011520939.1:p.His1743Gln
XM_011522638.1:c.5121T>G	XP_011520940.1:p.His1707Gln
XM_011522639.1:c.5103T>G	XP_011520941.1:p.His1701Gln
XM_011522640.1:c.5100T>G	XP_011520942.1:p.His1700Gln
XM_011522641.1:c.4869T>G	XP_011520943.1:p.His1623Gln
NM_000548.4:c.5178T>G	NP_000539.2:p.His1726Gln
NM_001077183.2:c.4977T>G	NP_001070651.1:p.His1659Gln
NM_001114382.2:c.5109T>G	NP_001107854.1:p.His1703Gln
NM_001318827.1:c.4869T>G	NP_001305756.1:p.His1623Gln
NM_001318829.1:c.4833T>G	NP_001305758.1:p.His1611Gln
NM_001318831.1:c.4446T>G	NP_001305760.1:p.His1482Gln
NM_001318832.1:c.5010T>G	NP_001305761.1:p.His1670Gln
NM_001363528.1:c.4980T>G	NP_001350457.1:p.His1660Gln
NM_021055.2:c.5049T>G	NP_066399.2:p.His1683Gln
XM_005255531.4:c.4980T>G	XP_005255588.2:p.His1660Gln
XM_011522636.2:c.5232T>G	XP_011520938.1:p.His1744Gln
XM_011522637.2:c.5229T>G	XP_011520939.1:p.His1743Gln
XM_011522638.2:c.5394T>G	XP_011520940.2:p.His1798Gln
XM_011522639.2:c.5103T>G	XP_011520941.1:p.His1701Gln
XM_011522640.2:c.5100T>G	XP_011520942.1:p.His1700Gln
XM_017023615.1:c.5175T>G	XP_016879104.1:p.His1725Gln
XM_017023616.1:c.5046T>G	XP_016879105.1:p.His1682Gln
XM_017023617.1:c.5142T>G	XP_016879106.1:p.His1714Gln
XM_017023618.1:c.3888T>G	XP_016879107.1:p.His1296Gln
XM_024450413.1:c.5064T>G	XP_024306181.1:p.His1688Gln
NM_000548.5:c.5178T>G MANE Select	NP_000539.2:p.His1726Gln
NM_001370404.1:c.5046T>G	NP_001357333.1:p.His1682Gln
NM_001370405.1:c.5037T>G	NP_001357334.1:p.His1679Gln
NM_001077183.3:c.4977T>G	NP_001070651.1:p.His1659Gln
NM_001114382.3:c.5109T>G	NP_001107854.1:p.His1703Gln
NM_001318827.2:c.4869T>G	NP_001305756.1:p.His1623Gln
NM_001318829.2:c.4833T>G	NP_001305758.1:p.His1611Gln
NM_001318831.2:c.4446T>G	NP_001305760.1:p.His1482Gln
NM_001318832.2:c.5010T>G	NP_001305761.1:p.His1670Gln
NM_001363528.2:c.4980T>G	NP_001350457.1:p.His1660Gln
NM_021055.3:c.5049T>G	NP_066399.2:p.His1683Gln