Canonical Allele Identifier: CA033640

Gene: TSC2

Linked Data

• ClinVar Variation Id: 318315
• ClinVar RCV Id: RCV001545749
• dbSNP Id: rs371074761
• ExAC: 16:2120556 A / G
• gnomAD v2: 16-2120556-A-G
• gnomAD v3: 16-2070555-A-G
• gnomAD v4: 16-2070555-A-G
• MyVariant Identifiers: chr16:g.2120556A>G (hg19) ; chr16:g.2070555A>G (hg38)
• PubMed: PMID:21624971 ; PMID:23514105

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2070555A>G , CM000678.2:g.2070555A>G	GRCh38
NC_000016.9:g.2120556A>G , CM000678.1:g.2120556A>G	GRCh37
NC_000016.8:g.2060557A>G	NCBI36
NG_005895.1:g.26250A>G , LRG_487:g.26250A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*363A>G	ENSP00000455997.2:n.*363A>G
ENST00000642206.2:c.1861A>G	ENSP00000495146.2:p.Ile621Val
ENST00000642365.2:c.1816A>G	ENSP00000495459.2:p.Ile606Val
ENST00000644417.2:c.*1253A>G	ENSP00000493912.2:n.*1253A>G
ENST00000646464.2:c.*1421A>G	ENSP00000496610.2:n.*1421A>G
ENST00000219476.9:c.1816A>G MANE Select	ENSP00000219476.3:p.Ile606Val
ENST00000350773.9:c.1816A>G	ENSP00000344383.4:p.Ile606Val
ENST00000401874.7:c.1816A>G	ENSP00000384468.2:p.Ile606Val
ENST00000568454.6:c.1849A>G	ENSP00000454487.1:p.Ile617Val
ENST00000642365.1:c.473A>G
ENST00000642561.1:c.1816A>G	ENSP00000495099.1:p.Ile606Val
ENST00000642797.1:c.1816A>G	ENSP00000493846.1:p.Ile606Val
ENST00000642936.1:c.1816A>G	ENSP00000494514.1:p.Ile606Val
ENST00000643088.1:c.1816A>G	ENSP00000494747.1:p.Ile606Val
ENST00000643298.1:c.*1318A>G	ENSP00000494393.1:n.*1318A>G
ENST00000643946.1:c.1816A>G	ENSP00000495927.1:p.Ile606Val
ENST00000644043.1:c.1816A>G	ENSP00000496262.1:p.Ile606Val
ENST00000644135.1:c.*316A>G	ENSP00000495644.1:n.*316A>G
ENST00000644329.1:c.1816A>G	ENSP00000496611.1:p.Ile606Val
ENST00000644335.1:c.1816A>G	ENSP00000496317.1:p.Ile606Val
ENST00000644399.1:c.1809A>G
ENST00000644847.1:n.808A>G
ENST00000645552.1:n.96A>G
ENST00000646388.1:c.1816A>G	ENSP00000495921.1:p.Ile606Val
ENST00000646634.1:n.829A>G
ENST00000219476.7:c.1816A>G	ENSP00000219476.3:p.Ile606Val
ENST00000350773.8:c.1816A>G	ENSP00000344383.4:p.Ile606Val
ENST00000382538.10:c.1669A>G	ENSP00000371978.6:p.Ile557Val
ENST00000401874.6:c.1816A>G	ENSP00000384468.2:p.Ile606Val
ENST00000439117.6:c.*1115A>G	ENSP00000406980.2:n.*1115A>G
ENST00000439673.6:c.1705A>G	ENSP00000399232.2:p.Ile569Val
ENST00000488675.5:n.323A>G
ENST00000562474.1:n.541A>G
ENST00000568454.5:c.1849A>G	ENSP00000454487.1:p.Ile617Val
ENST00000568566.5:c.456A>G	ENSP00000455997.1:n.456A>G
NM_000548.3:c.1816A>G , LRG_487t1:c.1816A>G	NP_000539.2:p.Ile606Val
NM_001077183.1:c.1816A>G	NP_001070651.1:p.Ile606Val
NM_001114382.1:c.1816A>G	NP_001107854.1:p.Ile606Val
XM_005255529.3:c.1816A>G	XP_005255586.2:p.Ile606Val
XM_005255531.3:c.1816A>G	XP_005255588.2:p.Ile606Val
XM_011522636.1:c.1816A>G	XP_011520938.1:p.Ile606Val
XM_011522637.1:c.1816A>G	XP_011520939.1:p.Ile606Val
XM_011522638.1:c.1705A>G	XP_011520940.1:p.Ile569Val
XM_011522639.1:c.1816A>G	XP_011520941.1:p.Ile606Val
XM_011522640.1:c.1816A>G	XP_011520942.1:p.Ile606Val
XM_011522641.1:c.1705A>G	XP_011520943.1:p.Ile569Val
NM_000548.4:c.1816A>G	NP_000539.2:p.Ile606Val
NM_001077183.2:c.1816A>G	NP_001070651.1:p.Ile606Val
NM_001114382.2:c.1816A>G	NP_001107854.1:p.Ile606Val
NM_001318827.1:c.1705A>G	NP_001305756.1:p.Ile569Val
NM_001318829.1:c.1669A>G	NP_001305758.1:p.Ile557Val
NM_001318831.1:c.1216A>G	NP_001305760.1:p.Ile406Val
NM_001318832.1:c.1849A>G	NP_001305761.1:p.Ile617Val
NM_001363528.1:c.1816A>G	NP_001350457.1:p.Ile606Val
NM_021055.2:c.1816A>G	NP_066399.2:p.Ile606Val
XM_005255531.4:c.1816A>G	XP_005255588.2:p.Ile606Val
XM_011522636.2:c.1816A>G	XP_011520938.1:p.Ile606Val
XM_011522637.2:c.1816A>G	XP_011520939.1:p.Ile606Val
XM_011522638.2:c.1978A>G	XP_011520940.2:p.Ile660Val
XM_011522639.2:c.1816A>G	XP_011520941.1:p.Ile606Val
XM_011522640.2:c.1816A>G	XP_011520942.1:p.Ile606Val
XM_017023615.1:c.1816A>G	XP_016879104.1:p.Ile606Val
XM_017023616.1:c.1816A>G	XP_016879105.1:p.Ile606Val
XM_017023617.1:c.1978A>G	XP_016879106.1:p.Ile660Val
XM_017023618.1:c.472A>G	XP_016879107.1:p.Ile158Val
XM_024450413.1:c.1816A>G	XP_024306181.1:p.Ile606Val
NM_000548.5:c.1816A>G MANE Select	NP_000539.2:p.Ile606Val
NM_001370404.1:c.1816A>G	NP_001357333.1:p.Ile606Val
NM_001370405.1:c.1816A>G	NP_001357334.1:p.Ile606Val
NM_001077183.3:c.1816A>G	NP_001070651.1:p.Ile606Val
NM_001114382.3:c.1816A>G	NP_001107854.1:p.Ile606Val
NM_001318827.2:c.1705A>G	NP_001305756.1:p.Ile569Val
NM_001318829.2:c.1669A>G	NP_001305758.1:p.Ile557Val
NM_001318831.2:c.1216A>G	NP_001305760.1:p.Ile406Val
NM_001318832.2:c.1849A>G	NP_001305761.1:p.Ile617Val
NM_001363528.2:c.1816A>G	NP_001350457.1:p.Ile606Val
NM_021055.3:c.1816A>G	NP_066399.2:p.Ile606Val