Canonical Allele Identifier: CA394304862

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135291A>C (hg19) ; chr16:g.2085290A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085290A>C , CM000678.2:g.2085290A>C	GRCh38
NC_000016.9:g.2135291A>C , CM000678.1:g.2135291A>C	GRCh37
NC_000016.8:g.2075292A>C	NCBI36
NG_005895.1:g.40985A>C , LRG_487:g.40985A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2979A>C	ENSP00000455997.2:n.*2979A>C
ENST00000642206.2:c.4477A>C	ENSP00000495146.2:p.Lys1493Gln
ENST00000642365.2:c.4627A>C	ENSP00000495459.2:p.Lys1543Gln
ENST00000644417.2:c.*5010A>C	ENSP00000493912.2:n.*5010A>C
ENST00000646464.2:c.*7379A>C	ENSP00000496610.2:n.*7379A>C
ENST00000219476.9:c.4630A>C MANE Select	ENSP00000219476.3:p.Lys1544Gln
ENST00000350773.9:c.4561A>C	ENSP00000344383.4:p.Lys1521Gln
ENST00000401874.7:c.4429A>C	ENSP00000384468.2:p.Lys1477Gln
ENST00000568454.6:c.4462A>C	ENSP00000454487.1:p.Lys1488Gln
ENST00000569110.2:c.853A>C
ENST00000569930.2:n.2512A>C
ENST00000642365.1:c.3284A>C
ENST00000642561.1:c.4501A>C	ENSP00000495099.1:p.Lys1501Gln
ENST00000642728.1:n.812A>C
ENST00000642791.1:n.227A>C
ENST00000642797.1:c.4432A>C	ENSP00000493846.1:p.Lys1478Gln
ENST00000642936.1:c.4498A>C	ENSP00000494514.1:p.Lys1500Gln
ENST00000643088.1:c.4423A>C	ENSP00000494747.1:p.Lys1475Gln
ENST00000643177.1:n.644A>C
ENST00000643426.1:n.2278A>C
ENST00000643946.1:c.4555A>C	ENSP00000495927.1:p.Lys1519Gln
ENST00000644043.1:c.4501A>C	ENSP00000496262.1:p.Lys1501Gln
ENST00000644278.1:n.112A>C
ENST00000644329.1:c.4429A>C	ENSP00000496611.1:p.Lys1477Gln
ENST00000644335.1:c.4426A>C	ENSP00000496317.1:p.Lys1476Gln
ENST00000644399.1:c.4551A>C
ENST00000645024.1:n.2714A>C
ENST00000646388.1:c.4624A>C	ENSP00000495921.1:p.Lys1542Gln
ENST00000646634.1:n.3445A>C
ENST00000646674.1:n.1882A>C
ENST00000647042.1:n.1853A>C
ENST00000647180.1:n.1743A>C
ENST00000219476.7:c.4630A>C	ENSP00000219476.3:p.Lys1544Gln
ENST00000350773.8:c.4561A>C	ENSP00000344383.4:p.Lys1521Gln
ENST00000382538.10:c.4285A>C	ENSP00000371978.6:p.Lys1429Gln
ENST00000401874.6:c.4429A>C	ENSP00000384468.2:p.Lys1477Gln
ENST00000439117.6:c.*3797A>C	ENSP00000406980.2:n.*3797A>C
ENST00000439673.6:c.4321A>C	ENSP00000399232.2:p.Lys1441Gln
ENST00000497886.5:n.2388A>C
ENST00000568454.5:c.4462A>C	ENSP00000454487.1:p.Lys1488Gln
ENST00000569110.1:c.812A>C
ENST00000569930.1:n.1745A>C
NM_000548.3:c.4630A>C , LRG_487t1:c.4630A>C	NP_000539.2:p.Lys1544Gln
NM_001077183.1:c.4429A>C	NP_001070651.1:p.Lys1477Gln
NM_001114382.1:c.4561A>C	NP_001107854.1:p.Lys1521Gln
XM_005255529.3:c.4501A>C	XP_005255586.2:p.Lys1501Gln
XM_005255531.3:c.4432A>C	XP_005255588.2:p.Lys1478Gln
XM_011522636.1:c.4684A>C	XP_011520938.1:p.Lys1562Gln
XM_011522637.1:c.4681A>C	XP_011520939.1:p.Lys1561Gln
XM_011522638.1:c.4573A>C	XP_011520940.1:p.Lys1525Gln
XM_011522639.1:c.4555A>C	XP_011520941.1:p.Lys1519Gln
XM_011522640.1:c.4552A>C	XP_011520942.1:p.Lys1518Gln
XM_011522641.1:c.4321A>C	XP_011520943.1:p.Lys1441Gln
NM_000548.4:c.4630A>C	NP_000539.2:p.Lys1544Gln
NM_001077183.2:c.4429A>C	NP_001070651.1:p.Lys1477Gln
NM_001114382.2:c.4561A>C	NP_001107854.1:p.Lys1521Gln
NM_001318827.1:c.4321A>C	NP_001305756.1:p.Lys1441Gln
NM_001318829.1:c.4285A>C	NP_001305758.1:p.Lys1429Gln
NM_001318831.1:c.3898A>C	NP_001305760.1:p.Lys1300Gln
NM_001318832.1:c.4462A>C	NP_001305761.1:p.Lys1488Gln
NM_001363528.1:c.4432A>C	NP_001350457.1:p.Lys1478Gln
NM_021055.2:c.4501A>C	NP_066399.2:p.Lys1501Gln
XM_005255531.4:c.4432A>C	XP_005255588.2:p.Lys1478Gln
XM_011522636.2:c.4684A>C	XP_011520938.1:p.Lys1562Gln
XM_011522637.2:c.4681A>C	XP_011520939.1:p.Lys1561Gln
XM_011522638.2:c.4846A>C	XP_011520940.2:p.Lys1616Gln
XM_011522639.2:c.4555A>C	XP_011520941.1:p.Lys1519Gln
XM_011522640.2:c.4552A>C	XP_011520942.1:p.Lys1518Gln
XM_017023615.1:c.4627A>C	XP_016879104.1:p.Lys1543Gln
XM_017023616.1:c.4498A>C	XP_016879105.1:p.Lys1500Gln
XM_017023617.1:c.4594A>C	XP_016879106.1:p.Lys1532Gln
XM_017023618.1:c.3340A>C	XP_016879107.1:p.Lys1114Gln
XM_024450413.1:c.4429A>C	XP_024306181.1:p.Lys1477Gln
NM_000548.5:c.4630A>C MANE Select	NP_000539.2:p.Lys1544Gln
NM_001370404.1:c.4498A>C	NP_001357333.1:p.Lys1500Gln
NM_001370405.1:c.4501A>C	NP_001357334.1:p.Lys1501Gln
NM_001077183.3:c.4429A>C	NP_001070651.1:p.Lys1477Gln
NM_001114382.3:c.4561A>C	NP_001107854.1:p.Lys1521Gln
NM_001318827.2:c.4321A>C	NP_001305756.1:p.Lys1441Gln
NM_001318829.2:c.4285A>C	NP_001305758.1:p.Lys1429Gln
NM_001318831.2:c.3898A>C	NP_001305760.1:p.Lys1300Gln
NM_001318832.2:c.4462A>C	NP_001305761.1:p.Lys1488Gln
NM_001363528.2:c.4432A>C	NP_001350457.1:p.Lys1478Gln
NM_021055.3:c.4501A>C	NP_066399.2:p.Lys1501Gln