Canonical Allele Identifier: CA10579895

Gene: TSC2

Linked Data

• ClinVar Variation Id: 230769
• ClinVar RCV Id: RCV000220849 ; RCV001853522
• dbSNP Id: rs876658759
• MyVariant Identifiers: chr16:g.2131779_2131781del (hg19) ; chr16:g.2081778_2081780del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081778_2081780del , CM000678.2:g.2081778_2081780del	GRCh38
NC_000016.9:g.2131779_2131781del , CM000678.1:g.2131779_2131781del	GRCh37
NC_000016.8:g.2071780_2071782del	NCBI36
NG_005895.1:g.37473_37475del , LRG_487:g.37473_37475del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2212_*2214del	ENSP00000455997.2:n.*2212_*2214del
ENST00000642206.2:c.3710_3712del	ENSP00000495146.2:p.Pro1237del
ENST00000642365.2:c.3791_3793del	ENSP00000495459.2:p.Pro1264del
ENST00000644417.2:c.*4243_*4245del	ENSP00000493912.2:n.*4243_*4245del
ENST00000646464.2:c.*4716_*4718del	ENSP00000496610.2:n.*4716_*4718del
ENST00000219476.9:c.3794_3796del MANE Select	ENSP00000219476.3:p.Pro1265del
ENST00000350773.9:c.3794_3796del	ENSP00000344383.4:p.Pro1265del
ENST00000401874.7:c.3662_3664del	ENSP00000384468.2:p.Pro1221del
ENST00000568454.6:c.3695_3697del	ENSP00000454487.1:p.Pro1232del
ENST00000642365.1:c.2448_2450del
ENST00000642561.1:c.3665_3667del	ENSP00000495099.1:p.Pro1222del
ENST00000642797.1:c.3665_3667del	ENSP00000493846.1:p.Pro1222del
ENST00000642936.1:c.3662_3664del	ENSP00000494514.1:p.Pro1221del
ENST00000643088.1:c.3662_3664del	ENSP00000494747.1:p.Pro1221del
ENST00000643426.1:n.1442_1444del
ENST00000643533.1:n.304_306del
ENST00000643946.1:c.3794_3796del	ENSP00000495927.1:p.Pro1265del
ENST00000644043.1:c.3665_3667del	ENSP00000496262.1:p.Pro1222del
ENST00000644329.1:c.3662_3664del	ENSP00000496611.1:p.Pro1221del
ENST00000644335.1:c.3665_3667del	ENSP00000496317.1:p.Pro1222del
ENST00000644399.1:c.3784_3786del
ENST00000644722.1:n.940_942del
ENST00000645024.1:n.1947_1949del
ENST00000646388.1:c.3794_3796del	ENSP00000495921.1:p.Pro1265del
ENST00000646634.1:n.2678_2680del
ENST00000646674.1:n.409_411del
ENST00000647042.1:n.1086_1088del
ENST00000647180.1:n.274_276del
ENST00000219476.7:c.3794_3796del	ENSP00000219476.3:p.Pro1265del
ENST00000350773.8:c.3794_3796del	ENSP00000344383.4:p.Pro1265del
ENST00000382538.10:c.3518_3520del	ENSP00000371978.6:p.Pro1173del
ENST00000401874.6:c.3662_3664del	ENSP00000384468.2:p.Pro1221del
ENST00000439117.6:c.*2961_*2963del	ENSP00000406980.2:n.*2961_*2963del
ENST00000439673.6:c.3554_3556del	ENSP00000399232.2:p.Pro1185del
ENST00000497886.5:n.1621_1623del
ENST00000568454.5:c.3695_3697del	ENSP00000454487.1:p.Pro1232del
NM_000548.3:c.3794_3796del , LRG_487t1:c.3794_3796del	NP_000539.2:p.Pro1265del
NM_001077183.1:c.3662_3664del	NP_001070651.1:p.Pro1221del
NM_001114382.1:c.3794_3796del	NP_001107854.1:p.Pro1265del
XM_005255529.3:c.3665_3667del	XP_005255586.2:p.Pro1222del
XM_005255531.3:c.3665_3667del	XP_005255588.2:p.Pro1222del
XM_011522636.1:c.3794_3796del	XP_011520938.1:p.Pro1265del
XM_011522637.1:c.3791_3793del	XP_011520939.1:p.Pro1264del
XM_011522638.1:c.3683_3685del	XP_011520940.1:p.Pro1228del
XM_011522639.1:c.3665_3667del	XP_011520941.1:p.Pro1222del
XM_011522640.1:c.3662_3664del	XP_011520942.1:p.Pro1221del
XM_011522641.1:c.3554_3556del	XP_011520943.1:p.Pro1185del
NM_000548.4:c.3794_3796del	NP_000539.2:p.Pro1265del
NM_001077183.2:c.3662_3664del	NP_001070651.1:p.Pro1221del
NM_001114382.2:c.3794_3796del	NP_001107854.1:p.Pro1265del
NM_001318827.1:c.3554_3556del	NP_001305756.1:p.Pro1185del
NM_001318829.1:c.3518_3520del	NP_001305758.1:p.Pro1173del
NM_001318831.1:c.3062_3064del	NP_001305760.1:p.Pro1021del
NM_001318832.1:c.3695_3697del	NP_001305761.1:p.Pro1232del
NM_001363528.1:c.3665_3667del	NP_001350457.1:p.Pro1222del
NM_021055.2:c.3665_3667del	NP_066399.2:p.Pro1222del
XM_005255531.4:c.3665_3667del	XP_005255588.2:p.Pro1222del
XM_011522636.2:c.3794_3796del	XP_011520938.1:p.Pro1265del
XM_011522637.2:c.3791_3793del	XP_011520939.1:p.Pro1264del
XM_011522638.2:c.3956_3958del	XP_011520940.2:p.Pro1319del
XM_011522639.2:c.3665_3667del	XP_011520941.1:p.Pro1222del
XM_011522640.2:c.3662_3664del	XP_011520942.1:p.Pro1221del
XM_017023615.1:c.3791_3793del	XP_016879104.1:p.Pro1264del
XM_017023616.1:c.3662_3664del	XP_016879105.1:p.Pro1221del
XM_017023617.1:c.3827_3829del	XP_016879106.1:p.Pro1276del
XM_017023618.1:c.2450_2452del	XP_016879107.1:p.Pro817del
XM_024450413.1:c.3662_3664del	XP_024306181.1:p.Pro1221del
NM_000548.5:c.3794_3796del MANE Select	NP_000539.2:p.Pro1265del
NM_001370404.1:c.3662_3664del	NP_001357333.1:p.Pro1221del
NM_001370405.1:c.3665_3667del	NP_001357334.1:p.Pro1222del
NM_001077183.3:c.3662_3664del	NP_001070651.1:p.Pro1221del
NM_001114382.3:c.3794_3796del	NP_001107854.1:p.Pro1265del
NM_001318827.2:c.3554_3556del	NP_001305756.1:p.Pro1185del
NM_001318829.2:c.3518_3520del	NP_001305758.1:p.Pro1173del
NM_001318831.2:c.3062_3064del	NP_001305760.1:p.Pro1021del
NM_001318832.2:c.3695_3697del	NP_001305761.1:p.Pro1232del
NM_001363528.2:c.3665_3667del	NP_001350457.1:p.Pro1222del
NM_021055.3:c.3665_3667del	NP_066399.2:p.Pro1222del