Canonical Allele Identifier: CA394285228

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2129291A>C (hg19) ; chr16:g.2079290A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079290A>C , CM000678.2:g.2079290A>C	GRCh38
NC_000016.9:g.2129291A>C , CM000678.1:g.2129291A>C	GRCh37
NC_000016.8:g.2069292A>C	NCBI36
NG_005895.1:g.34985A>C , LRG_487:g.34985A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1564A>C	ENSP00000455997.2:n.*1564A>C
ENST00000642206.2:c.3062A>C	ENSP00000495146.2:p.Glu1021Ala
ENST00000642365.2:c.3143A>C	ENSP00000495459.2:p.Glu1048Ala
ENST00000644417.2:c.*3595A>C	ENSP00000493912.2:n.*3595A>C
ENST00000646464.2:c.*4068A>C	ENSP00000496610.2:n.*4068A>C
ENST00000219476.9:c.3146A>C MANE Select	ENSP00000219476.3:p.Glu1049Ala
ENST00000350773.9:c.3146A>C	ENSP00000344383.4:p.Glu1049Ala
ENST00000401874.7:c.3014A>C	ENSP00000384468.2:p.Glu1005Ala
ENST00000471143.6:c.374A>C	ENSP00000458541.2:n.374A>C
ENST00000568366.6:n.503A>C
ENST00000568454.6:c.3047A>C	ENSP00000454487.1:p.Glu1016Ala
ENST00000642365.1:c.1800A>C
ENST00000642561.1:c.3017A>C	ENSP00000495099.1:p.Glu1006Ala
ENST00000642797.1:c.3017A>C	ENSP00000493846.1:p.Glu1006Ala
ENST00000642936.1:c.3014A>C	ENSP00000494514.1:p.Glu1005Ala
ENST00000643088.1:c.3014A>C	ENSP00000494747.1:p.Glu1005Ala
ENST00000643946.1:c.3146A>C	ENSP00000495927.1:p.Glu1049Ala
ENST00000644043.1:c.3017A>C	ENSP00000496262.1:p.Glu1006Ala
ENST00000644329.1:c.3014A>C	ENSP00000496611.1:p.Glu1005Ala
ENST00000644335.1:c.3017A>C	ENSP00000496317.1:p.Glu1006Ala
ENST00000644399.1:c.3136A>C
ENST00000644722.1:n.292A>C
ENST00000645024.1:n.1299A>C
ENST00000646388.1:c.3146A>C	ENSP00000495921.1:p.Glu1049Ala
ENST00000646634.1:n.2030A>C
ENST00000647042.1:n.438A>C
ENST00000219476.7:c.3146A>C	ENSP00000219476.3:p.Glu1049Ala
ENST00000350773.8:c.3146A>C	ENSP00000344383.4:p.Glu1049Ala
ENST00000382538.10:c.2870A>C	ENSP00000371978.6:p.Glu957Ala
ENST00000401874.6:c.3014A>C	ENSP00000384468.2:p.Glu1005Ala
ENST00000439117.6:c.*2313A>C	ENSP00000406980.2:n.*2313A>C
ENST00000439673.6:c.2906A>C	ENSP00000399232.2:p.Glu969Ala
ENST00000471143.5:c.372A>C
ENST00000483020.5:c.386A>C	ENSP00000460310.1:n.386A>C
ENST00000497886.5:n.973A>C
ENST00000561695.1:n.371A>C
ENST00000568366.5:n.503A>C
ENST00000568454.5:c.3047A>C	ENSP00000454487.1:p.Glu1016Ala
NM_000548.3:c.3146A>C , LRG_487t1:c.3146A>C	NP_000539.2:p.Glu1049Ala
NM_001077183.1:c.3014A>C	NP_001070651.1:p.Glu1005Ala
NM_001114382.1:c.3146A>C	NP_001107854.1:p.Glu1049Ala
XM_005255529.3:c.3017A>C	XP_005255586.2:p.Glu1006Ala
XM_005255531.3:c.3017A>C	XP_005255588.2:p.Glu1006Ala
XM_011522636.1:c.3146A>C	XP_011520938.1:p.Glu1049Ala
XM_011522637.1:c.3143A>C	XP_011520939.1:p.Glu1048Ala
XM_011522638.1:c.3035A>C	XP_011520940.1:p.Glu1012Ala
XM_011522639.1:c.3017A>C	XP_011520941.1:p.Glu1006Ala
XM_011522640.1:c.3014A>C	XP_011520942.1:p.Glu1005Ala
XM_011522641.1:c.2906A>C	XP_011520943.1:p.Glu969Ala
NM_000548.4:c.3146A>C	NP_000539.2:p.Glu1049Ala
NM_001077183.2:c.3014A>C	NP_001070651.1:p.Glu1005Ala
NM_001114382.2:c.3146A>C	NP_001107854.1:p.Glu1049Ala
NM_001318827.1:c.2906A>C	NP_001305756.1:p.Glu969Ala
NM_001318829.1:c.2870A>C	NP_001305758.1:p.Glu957Ala
NM_001318831.1:c.2414A>C	NP_001305760.1:p.Glu805Ala
NM_001318832.1:c.3047A>C	NP_001305761.1:p.Glu1016Ala
NM_001363528.1:c.3017A>C	NP_001350457.1:p.Glu1006Ala
NM_021055.2:c.3017A>C	NP_066399.2:p.Glu1006Ala
XM_005255531.4:c.3017A>C	XP_005255588.2:p.Glu1006Ala
XM_011522636.2:c.3146A>C	XP_011520938.1:p.Glu1049Ala
XM_011522637.2:c.3143A>C	XP_011520939.1:p.Glu1048Ala
XM_011522638.2:c.3308A>C	XP_011520940.2:p.Glu1103Ala
XM_011522639.2:c.3017A>C	XP_011520941.1:p.Glu1006Ala
XM_011522640.2:c.3014A>C	XP_011520942.1:p.Glu1005Ala
XM_017023615.1:c.3143A>C	XP_016879104.1:p.Glu1048Ala
XM_017023616.1:c.3014A>C	XP_016879105.1:p.Glu1005Ala
XM_017023617.1:c.3179A>C	XP_016879106.1:p.Glu1060Ala
XM_017023618.1:c.1802A>C	XP_016879107.1:p.Glu601Ala
XM_024450413.1:c.3014A>C	XP_024306181.1:p.Glu1005Ala
NM_000548.5:c.3146A>C MANE Select	NP_000539.2:p.Glu1049Ala
NM_001370404.1:c.3014A>C	NP_001357333.1:p.Glu1005Ala
NM_001370405.1:c.3017A>C	NP_001357334.1:p.Glu1006Ala
NM_001077183.3:c.3014A>C	NP_001070651.1:p.Glu1005Ala
NM_001114382.3:c.3146A>C	NP_001107854.1:p.Glu1049Ala
NM_001318827.2:c.2906A>C	NP_001305756.1:p.Glu969Ala
NM_001318829.2:c.2870A>C	NP_001305758.1:p.Glu957Ala
NM_001318831.2:c.2414A>C	NP_001305760.1:p.Glu805Ala
NM_001318832.2:c.3047A>C	NP_001305761.1:p.Glu1016Ala
NM_001363528.2:c.3017A>C	NP_001350457.1:p.Glu1006Ala
NM_021055.3:c.3017A>C	NP_066399.2:p.Glu1006Ala