Canonical Allele Identifier: CA394285718

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2129345T>C (hg19) ; chr16:g.2079344T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079344T>C , CM000678.2:g.2079344T>C	GRCh38
NC_000016.9:g.2129345T>C , CM000678.1:g.2129345T>C	GRCh37
NC_000016.8:g.2069346T>C	NCBI36
NG_005895.1:g.35039T>C , LRG_487:g.35039T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1618T>C	ENSP00000455997.2:n.*1618T>C
ENST00000642206.2:c.3116T>C	ENSP00000495146.2:p.Val1039Ala
ENST00000642365.2:c.3197T>C	ENSP00000495459.2:p.Val1066Ala
ENST00000644417.2:c.*3649T>C	ENSP00000493912.2:n.*3649T>C
ENST00000646464.2:c.*4122T>C	ENSP00000496610.2:n.*4122T>C
ENST00000219476.9:c.3200T>C MANE Select	ENSP00000219476.3:p.Val1067Ala
ENST00000350773.9:c.3200T>C	ENSP00000344383.4:p.Val1067Ala
ENST00000401874.7:c.3068T>C	ENSP00000384468.2:p.Val1023Ala
ENST00000471143.6:c.428T>C	ENSP00000458541.2:n.428T>C
ENST00000568366.6:n.557T>C
ENST00000568454.6:c.3101T>C	ENSP00000454487.1:p.Val1034Ala
ENST00000642365.1:c.1854T>C
ENST00000642561.1:c.3071T>C	ENSP00000495099.1:p.Val1024Ala
ENST00000642797.1:c.3071T>C	ENSP00000493846.1:p.Val1024Ala
ENST00000642936.1:c.3068T>C	ENSP00000494514.1:p.Val1023Ala
ENST00000643088.1:c.3068T>C	ENSP00000494747.1:p.Val1023Ala
ENST00000643946.1:c.3200T>C	ENSP00000495927.1:p.Val1067Ala
ENST00000644043.1:c.3071T>C	ENSP00000496262.1:p.Val1024Ala
ENST00000644329.1:c.3068T>C	ENSP00000496611.1:p.Val1023Ala
ENST00000644335.1:c.3071T>C	ENSP00000496317.1:p.Val1024Ala
ENST00000644399.1:c.3190T>C
ENST00000644722.1:n.346T>C
ENST00000645024.1:n.1353T>C
ENST00000646388.1:c.3200T>C	ENSP00000495921.1:p.Val1067Ala
ENST00000646634.1:n.2084T>C
ENST00000647042.1:n.492T>C
ENST00000219476.7:c.3200T>C	ENSP00000219476.3:p.Val1067Ala
ENST00000350773.8:c.3200T>C	ENSP00000344383.4:p.Val1067Ala
ENST00000382538.10:c.2924T>C	ENSP00000371978.6:p.Val975Ala
ENST00000401874.6:c.3068T>C	ENSP00000384468.2:p.Val1023Ala
ENST00000439117.6:c.*2367T>C	ENSP00000406980.2:n.*2367T>C
ENST00000439673.6:c.2960T>C	ENSP00000399232.2:p.Val987Ala
ENST00000471143.5:c.426T>C
ENST00000483020.5:c.440T>C	ENSP00000460310.1:n.440T>C
ENST00000497886.5:n.1027T>C
ENST00000561695.1:n.425T>C
ENST00000568366.5:n.557T>C
ENST00000568454.5:c.3101T>C	ENSP00000454487.1:p.Val1034Ala
NM_000548.3:c.3200T>C , LRG_487t1:c.3200T>C	NP_000539.2:p.Val1067Ala
NM_001077183.1:c.3068T>C	NP_001070651.1:p.Val1023Ala
NM_001114382.1:c.3200T>C	NP_001107854.1:p.Val1067Ala
XM_005255529.3:c.3071T>C	XP_005255586.2:p.Val1024Ala
XM_005255531.3:c.3071T>C	XP_005255588.2:p.Val1024Ala
XM_011522636.1:c.3200T>C	XP_011520938.1:p.Val1067Ala
XM_011522637.1:c.3197T>C	XP_011520939.1:p.Val1066Ala
XM_011522638.1:c.3089T>C	XP_011520940.1:p.Val1030Ala
XM_011522639.1:c.3071T>C	XP_011520941.1:p.Val1024Ala
XM_011522640.1:c.3068T>C	XP_011520942.1:p.Val1023Ala
XM_011522641.1:c.2960T>C	XP_011520943.1:p.Val987Ala
NM_000548.4:c.3200T>C	NP_000539.2:p.Val1067Ala
NM_001077183.2:c.3068T>C	NP_001070651.1:p.Val1023Ala
NM_001114382.2:c.3200T>C	NP_001107854.1:p.Val1067Ala
NM_001318827.1:c.2960T>C	NP_001305756.1:p.Val987Ala
NM_001318829.1:c.2924T>C	NP_001305758.1:p.Val975Ala
NM_001318831.1:c.2468T>C	NP_001305760.1:p.Val823Ala
NM_001318832.1:c.3101T>C	NP_001305761.1:p.Val1034Ala
NM_001363528.1:c.3071T>C	NP_001350457.1:p.Val1024Ala
NM_021055.2:c.3071T>C	NP_066399.2:p.Val1024Ala
XM_005255531.4:c.3071T>C	XP_005255588.2:p.Val1024Ala
XM_011522636.2:c.3200T>C	XP_011520938.1:p.Val1067Ala
XM_011522637.2:c.3197T>C	XP_011520939.1:p.Val1066Ala
XM_011522638.2:c.3362T>C	XP_011520940.2:p.Val1121Ala
XM_011522639.2:c.3071T>C	XP_011520941.1:p.Val1024Ala
XM_011522640.2:c.3068T>C	XP_011520942.1:p.Val1023Ala
XM_017023615.1:c.3197T>C	XP_016879104.1:p.Val1066Ala
XM_017023616.1:c.3068T>C	XP_016879105.1:p.Val1023Ala
XM_017023617.1:c.3233T>C	XP_016879106.1:p.Val1078Ala
XM_017023618.1:c.1856T>C	XP_016879107.1:p.Val619Ala
XM_024450413.1:c.3068T>C	XP_024306181.1:p.Val1023Ala
NM_000548.5:c.3200T>C MANE Select	NP_000539.2:p.Val1067Ala
NM_001370404.1:c.3068T>C	NP_001357333.1:p.Val1023Ala
NM_001370405.1:c.3071T>C	NP_001357334.1:p.Val1024Ala
NM_001077183.3:c.3068T>C	NP_001070651.1:p.Val1023Ala
NM_001114382.3:c.3200T>C	NP_001107854.1:p.Val1067Ala
NM_001318827.2:c.2960T>C	NP_001305756.1:p.Val987Ala
NM_001318829.2:c.2924T>C	NP_001305758.1:p.Val975Ala
NM_001318831.2:c.2468T>C	NP_001305760.1:p.Val823Ala
NM_001318832.2:c.3101T>C	NP_001305761.1:p.Val1034Ala
NM_001363528.2:c.3071T>C	NP_001350457.1:p.Val1024Ala
NM_021055.3:c.3071T>C	NP_066399.2:p.Val1024Ala