Canonical Allele Identifier: CA394315027

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138450T>G (hg19) ; chr16:g.2088449T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088449T>G , CM000678.2:g.2088449T>G	GRCh38
NC_000016.9:g.2138450T>G , CM000678.1:g.2138450T>G	GRCh37
NC_000016.8:g.2078451T>G	NCBI36
NG_005895.1:g.44144T>G , LRG_487:g.44144T>G
NG_008617.1:g.54772A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3612T>G	ENSP00000455997.2:n.*3612T>G
ENST00000642206.2:c.5110T>G	ENSP00000495146.2:p.Cys1704Gly
ENST00000642365.2:c.5260T>G	ENSP00000495459.2:p.Cys1754Gly
ENST00000644417.2:c.*5776T>G	ENSP00000493912.2:n.*5776T>G
ENST00000646464.2:c.*8012T>G	ENSP00000496610.2:n.*8012T>G
ENST00000219476.9:c.5263T>G MANE Select	ENSP00000219476.3:p.Cys1755Gly
ENST00000350773.9:c.5194T>G	ENSP00000344383.4:p.Cys1732Gly
ENST00000401874.7:c.5062T>G	ENSP00000384468.2:p.Cys1688Gly
ENST00000568454.6:c.5095T>G	ENSP00000454487.1:p.Cys1699Gly
ENST00000569110.2:c.1486T>G
ENST00000569930.2:n.3145T>G
ENST00000642365.1:c.3917T>G
ENST00000642561.1:c.5122T>G	ENSP00000495099.1:p.Cys1708Gly
ENST00000642791.1:n.860T>G
ENST00000642797.1:c.5065T>G	ENSP00000493846.1:p.Cys1689Gly
ENST00000642936.1:c.5131T>G	ENSP00000494514.1:p.Cys1711Gly
ENST00000643088.1:c.5056T>G	ENSP00000494747.1:p.Cys1686Gly
ENST00000643426.1:n.2911T>G
ENST00000643946.1:c.5188T>G	ENSP00000495927.1:p.Cys1730Gly
ENST00000644043.1:c.5134T>G	ENSP00000496262.1:p.Cys1712Gly
ENST00000644329.1:c.5149T>G	ENSP00000496611.1:p.Cys1717Gly
ENST00000644335.1:c.5059T>G	ENSP00000496317.1:p.Cys1687Gly
ENST00000644399.1:c.5184T>G
ENST00000645024.1:n.3347T>G
ENST00000646388.1:c.5257T>G	ENSP00000495921.1:p.Cys1753Gly
ENST00000646634.1:n.4078T>G
ENST00000646674.1:n.2515T>G
ENST00000647042.1:n.2486T>G
ENST00000647180.1:n.2376T>G
ENST00000219476.7:c.5263T>G	ENSP00000219476.3:p.Cys1755Gly
ENST00000350773.8:c.5194T>G	ENSP00000344383.4:p.Cys1732Gly
ENST00000382538.10:c.4918T>G	ENSP00000371978.6:p.Cys1640Gly
ENST00000401874.6:c.5062T>G	ENSP00000384468.2:p.Cys1688Gly
ENST00000439117.6:c.*4430T>G	ENSP00000406980.2:n.*4430T>G
ENST00000439673.6:c.4954T>G	ENSP00000399232.2:p.Cys1652Gly
ENST00000497886.5:n.2986T>G
ENST00000568454.5:c.5095T>G	ENSP00000454487.1:p.Cys1699Gly
ENST00000569110.1:c.1445T>G
ENST00000569930.1:n.2378T>G
NM_000548.3:c.5263T>G , LRG_487t1:c.5263T>G	NP_000539.2:p.Cys1755Gly
NM_001077183.1:c.5062T>G	NP_001070651.1:p.Cys1688Gly
NM_001114382.1:c.5194T>G	NP_001107854.1:p.Cys1732Gly
XM_005255529.3:c.5134T>G	XP_005255586.2:p.Cys1712Gly
XM_005255531.3:c.5065T>G	XP_005255588.2:p.Cys1689Gly
XM_011522636.1:c.5317T>G	XP_011520938.1:p.Cys1773Gly
XM_011522637.1:c.5314T>G	XP_011520939.1:p.Cys1772Gly
XM_011522638.1:c.5206T>G	XP_011520940.1:p.Cys1736Gly
XM_011522639.1:c.5188T>G	XP_011520941.1:p.Cys1730Gly
XM_011522640.1:c.5185T>G	XP_011520942.1:p.Cys1729Gly
XM_011522641.1:c.4954T>G	XP_011520943.1:p.Cys1652Gly
NM_000548.4:c.5263T>G	NP_000539.2:p.Cys1755Gly
NM_001077183.2:c.5062T>G	NP_001070651.1:p.Cys1688Gly
NM_001114382.2:c.5194T>G	NP_001107854.1:p.Cys1732Gly
NM_001318827.1:c.4954T>G	NP_001305756.1:p.Cys1652Gly
NM_001318829.1:c.4918T>G	NP_001305758.1:p.Cys1640Gly
NM_001318831.1:c.4531T>G	NP_001305760.1:p.Cys1511Gly
NM_001318832.1:c.5095T>G	NP_001305761.1:p.Cys1699Gly
NM_001363528.1:c.5065T>G	NP_001350457.1:p.Cys1689Gly
NM_021055.2:c.5134T>G	NP_066399.2:p.Cys1712Gly
XM_005255531.4:c.5065T>G	XP_005255588.2:p.Cys1689Gly
XM_011522636.2:c.5317T>G	XP_011520938.1:p.Cys1773Gly
XM_011522637.2:c.5314T>G	XP_011520939.1:p.Cys1772Gly
XM_011522638.2:c.5479T>G	XP_011520940.2:p.Cys1827Gly
XM_011522639.2:c.5188T>G	XP_011520941.1:p.Cys1730Gly
XM_011522640.2:c.5185T>G	XP_011520942.1:p.Cys1729Gly
XM_017023615.1:c.5260T>G	XP_016879104.1:p.Cys1754Gly
XM_017023616.1:c.5131T>G	XP_016879105.1:p.Cys1711Gly
XM_017023617.1:c.5227T>G	XP_016879106.1:p.Cys1743Gly
XM_017023618.1:c.3973T>G	XP_016879107.1:p.Cys1325Gly
XM_024450413.1:c.5149T>G	XP_024306181.1:p.Cys1717Gly
NM_000548.5:c.5263T>G MANE Select	NP_000539.2:p.Cys1755Gly
NM_001370404.1:c.5131T>G	NP_001357333.1:p.Cys1711Gly
NM_001370405.1:c.5122T>G	NP_001357334.1:p.Cys1708Gly
NM_001077183.3:c.5062T>G	NP_001070651.1:p.Cys1688Gly
NM_001114382.3:c.5194T>G	NP_001107854.1:p.Cys1732Gly
NM_001318827.2:c.4954T>G	NP_001305756.1:p.Cys1652Gly
NM_001318829.2:c.4918T>G	NP_001305758.1:p.Cys1640Gly
NM_001318831.2:c.4531T>G	NP_001305760.1:p.Cys1511Gly
NM_001318832.2:c.5095T>G	NP_001305761.1:p.Cys1699Gly
NM_001363528.2:c.5065T>G	NP_001350457.1:p.Cys1689Gly
NM_021055.3:c.5134T>G	NP_066399.2:p.Cys1712Gly