Canonical Allele Identifier: CA019154

Gene: TSC2

Linked Data

• ClinVar Variation Id: 41733
• ClinVar RCV Id: RCV000034650 ; RCV000055184 ; RCV000122226 ; RCV000163263 ; RCV000989431 ; RCV004541070
• dbSNP Id: rs45517294
• ExAC: 16:2130198 G / A
• gnomAD v2: 16-2130198-G-A
• gnomAD v3: 16-2080197-G-A
• gnomAD v4: 16-2080197-G-A
• MyVariant Identifiers: chr16:g.2130198G>A (hg19) ; chr16:g.2080197G>A (hg38)
• PubMed: PMID:10732801 ; PMID:22161988 ; PMID:22703879 ; PMID:22903760 ; PMID:24055113 ; PMID:24728327 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2080197G>A , CM000678.2:g.2080197G>A	GRCh38
NC_000016.9:g.2130198G>A , CM000678.1:g.2130198G>A	GRCh37
NC_000016.8:g.2070199G>A	NCBI36
NG_005895.1:g.35892G>A , LRG_487:g.35892G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1848G>A	ENSP00000455997.2:n.*1848G>A
ENST00000642206.2:c.3346G>A	ENSP00000495146.2:p.Val1116Met
ENST00000642365.2:c.3427G>A	ENSP00000495459.2:p.Val1143Met
ENST00000644417.2:c.*3879G>A	ENSP00000493912.2:n.*3879G>A
ENST00000646464.2:c.*4352G>A	ENSP00000496610.2:n.*4352G>A
ENST00000219476.9:c.3430G>A MANE Select	ENSP00000219476.3:p.Val1144Met
ENST00000350773.9:c.3430G>A	ENSP00000344383.4:p.Val1144Met
ENST00000401874.7:c.3298G>A	ENSP00000384468.2:p.Val1100Met
ENST00000568454.6:c.3331G>A	ENSP00000454487.1:p.Val1111Met
ENST00000642365.1:c.2084G>A
ENST00000642561.1:c.3301G>A	ENSP00000495099.1:p.Val1101Met
ENST00000642797.1:c.3301G>A	ENSP00000493846.1:p.Val1101Met
ENST00000642936.1:c.3298G>A	ENSP00000494514.1:p.Val1100Met
ENST00000643088.1:c.3298G>A	ENSP00000494747.1:p.Val1100Met
ENST00000643946.1:c.3430G>A	ENSP00000495927.1:p.Val1144Met
ENST00000644043.1:c.3301G>A	ENSP00000496262.1:p.Val1101Met
ENST00000644329.1:c.3298G>A	ENSP00000496611.1:p.Val1100Met
ENST00000644335.1:c.3301G>A	ENSP00000496317.1:p.Val1101Met
ENST00000644399.1:c.3420G>A
ENST00000644722.1:n.576G>A
ENST00000645024.1:n.1583G>A
ENST00000646388.1:c.3430G>A	ENSP00000495921.1:p.Val1144Met
ENST00000646634.1:n.2314G>A
ENST00000646674.1:n.45G>A
ENST00000647042.1:n.722G>A
ENST00000219476.7:c.3430G>A	ENSP00000219476.3:p.Val1144Met
ENST00000350773.8:c.3430G>A	ENSP00000344383.4:p.Val1144Met
ENST00000382538.10:c.3154G>A	ENSP00000371978.6:p.Val1052Met
ENST00000401874.6:c.3298G>A	ENSP00000384468.2:p.Val1100Met
ENST00000439117.6:c.*2597G>A	ENSP00000406980.2:n.*2597G>A
ENST00000439673.6:c.3190G>A	ENSP00000399232.2:p.Val1064Met
ENST00000497886.5:n.1257G>A
ENST00000568454.5:c.3331G>A	ENSP00000454487.1:p.Val1111Met
NM_000548.3:c.3430G>A , LRG_487t1:c.3430G>A	NP_000539.2:p.Val1144Met
NM_001077183.1:c.3298G>A	NP_001070651.1:p.Val1100Met
NM_001114382.1:c.3430G>A	NP_001107854.1:p.Val1144Met
XM_005255529.3:c.3301G>A	XP_005255586.2:p.Val1101Met
XM_005255531.3:c.3301G>A	XP_005255588.2:p.Val1101Met
XM_011522636.1:c.3430G>A	XP_011520938.1:p.Val1144Met
XM_011522637.1:c.3427G>A	XP_011520939.1:p.Val1143Met
XM_011522638.1:c.3319G>A	XP_011520940.1:p.Val1107Met
XM_011522639.1:c.3301G>A	XP_011520941.1:p.Val1101Met
XM_011522640.1:c.3298G>A	XP_011520942.1:p.Val1100Met
XM_011522641.1:c.3190G>A	XP_011520943.1:p.Val1064Met
NM_000548.4:c.3430G>A	NP_000539.2:p.Val1144Met
NM_001077183.2:c.3298G>A	NP_001070651.1:p.Val1100Met
NM_001114382.2:c.3430G>A	NP_001107854.1:p.Val1144Met
NM_001318827.1:c.3190G>A	NP_001305756.1:p.Val1064Met
NM_001318829.1:c.3154G>A	NP_001305758.1:p.Val1052Met
NM_001318831.1:c.2698G>A	NP_001305760.1:p.Val900Met
NM_001318832.1:c.3331G>A	NP_001305761.1:p.Val1111Met
NM_001363528.1:c.3301G>A	NP_001350457.1:p.Val1101Met
NM_021055.2:c.3301G>A	NP_066399.2:p.Val1101Met
XM_005255531.4:c.3301G>A	XP_005255588.2:p.Val1101Met
XM_011522636.2:c.3430G>A	XP_011520938.1:p.Val1144Met
XM_011522637.2:c.3427G>A	XP_011520939.1:p.Val1143Met
XM_011522638.2:c.3592G>A	XP_011520940.2:p.Val1198Met
XM_011522639.2:c.3301G>A	XP_011520941.1:p.Val1101Met
XM_011522640.2:c.3298G>A	XP_011520942.1:p.Val1100Met
XM_017023615.1:c.3427G>A	XP_016879104.1:p.Val1143Met
XM_017023616.1:c.3298G>A	XP_016879105.1:p.Val1100Met
XM_017023617.1:c.3463G>A	XP_016879106.1:p.Val1155Met
XM_017023618.1:c.2086G>A	XP_016879107.1:p.Val696Met
XM_024450413.1:c.3298G>A	XP_024306181.1:p.Val1100Met
NM_000548.5:c.3430G>A MANE Select	NP_000539.2:p.Val1144Met
NM_001370404.1:c.3298G>A	NP_001357333.1:p.Val1100Met
NM_001370405.1:c.3301G>A	NP_001357334.1:p.Val1101Met
NM_001077183.3:c.3298G>A	NP_001070651.1:p.Val1100Met
NM_001114382.3:c.3430G>A	NP_001107854.1:p.Val1144Met
NM_001318827.2:c.3190G>A	NP_001305756.1:p.Val1064Met
NM_001318829.2:c.3154G>A	NP_001305758.1:p.Val1052Met
NM_001318831.2:c.2698G>A	NP_001305760.1:p.Val900Met
NM_001318832.2:c.3331G>A	NP_001305761.1:p.Val1111Met
NM_001363528.2:c.3301G>A	NP_001350457.1:p.Val1101Met
NM_021055.3:c.3301G>A	NP_066399.2:p.Val1101Met