Canonical Allele Identifier: CA016643

Gene: TSC2

Linked Data

• ClinVar Variation Id: 50106
• ClinVar RCV Id: RCV000043373 ; RCV000490930 ; RCV001240824
• dbSNP Id: rs45486196
• MyVariant Identifiers: chr16:g.2121925G>A (hg19) ; chr16:g.2071924G>A (hg38)
• PubMed: PMID:10205261 ; PMID:11741832 ; PMID:15483652 ; PMID:21309039

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2071924G>A , CM000678.2:g.2071924G>A	GRCh38
NC_000016.9:g.2121925G>A , CM000678.1:g.2121925G>A	GRCh37
NC_000016.8:g.2061926G>A	NCBI36
NG_005895.1:g.27619G>A , LRG_487:g.27619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*634G>A	ENSP00000455997.2:n.*634G>A
ENST00000642206.2:c.2132G>A	ENSP00000495146.2:p.Cys711Tyr
ENST00000642365.2:c.2087G>A	ENSP00000495459.2:p.Cys696Tyr
ENST00000644417.2:c.*1524G>A	ENSP00000493912.2:n.*1524G>A
ENST00000646464.2:c.*1692G>A	ENSP00000496610.2:n.*1692G>A
ENST00000219476.9:c.2087G>A MANE Select	ENSP00000219476.3:p.Cys696Tyr
ENST00000350773.9:c.2087G>A	ENSP00000344383.4:p.Cys696Tyr
ENST00000401874.7:c.2087G>A	ENSP00000384468.2:p.Cys696Tyr
ENST00000563346.2:n.265G>A
ENST00000568454.6:c.2120G>A	ENSP00000454487.1:p.Cys707Tyr
ENST00000642365.1:c.744G>A
ENST00000642561.1:c.2087G>A	ENSP00000495099.1:p.Cys696Tyr
ENST00000642797.1:c.2087G>A	ENSP00000493846.1:p.Cys696Tyr
ENST00000642936.1:c.2087G>A	ENSP00000494514.1:p.Cys696Tyr
ENST00000643088.1:c.2087G>A	ENSP00000494747.1:p.Cys696Tyr
ENST00000643298.1:c.*1589G>A	ENSP00000494393.1:n.*1589G>A
ENST00000643946.1:c.2087G>A	ENSP00000495927.1:p.Cys696Tyr
ENST00000644043.1:c.2087G>A	ENSP00000496262.1:p.Cys696Tyr
ENST00000644329.1:c.2087G>A	ENSP00000496611.1:p.Cys696Tyr
ENST00000644335.1:c.2087G>A	ENSP00000496317.1:p.Cys696Tyr
ENST00000644399.1:c.2080G>A
ENST00000644847.1:n.1079G>A
ENST00000645024.1:n.369G>A
ENST00000645552.1:n.367G>A
ENST00000646388.1:c.2087G>A	ENSP00000495921.1:p.Cys696Tyr
ENST00000646464.1:c.140G>A	ENSP00000496610.1:p.Cys47Tyr
ENST00000646634.1:n.1100G>A
ENST00000219476.7:c.2087G>A	ENSP00000219476.3:p.Cys696Tyr
ENST00000350773.8:c.2087G>A	ENSP00000344383.4:p.Cys696Tyr
ENST00000382538.10:c.1940G>A	ENSP00000371978.6:p.Cys647Tyr
ENST00000401874.6:c.2087G>A	ENSP00000384468.2:p.Cys696Tyr
ENST00000439117.6:c.*1386G>A	ENSP00000406980.2:n.*1386G>A
ENST00000439673.6:c.1976G>A	ENSP00000399232.2:p.Cys659Tyr
ENST00000563346.1:n.156G>A
ENST00000568454.5:c.2120G>A	ENSP00000454487.1:p.Cys707Tyr
NM_000548.3:c.2087G>A , LRG_487t1:c.2087G>A	NP_000539.2:p.Cys696Tyr
NM_001077183.1:c.2087G>A	NP_001070651.1:p.Cys696Tyr
NM_001114382.1:c.2087G>A	NP_001107854.1:p.Cys696Tyr
XM_005255529.3:c.2087G>A	XP_005255586.2:p.Cys696Tyr
XM_005255531.3:c.2087G>A	XP_005255588.2:p.Cys696Tyr
XM_011522636.1:c.2087G>A	XP_011520938.1:p.Cys696Tyr
XM_011522637.1:c.2087G>A	XP_011520939.1:p.Cys696Tyr
XM_011522638.1:c.1976G>A	XP_011520940.1:p.Cys659Tyr
XM_011522639.1:c.2087G>A	XP_011520941.1:p.Cys696Tyr
XM_011522640.1:c.2087G>A	XP_011520942.1:p.Cys696Tyr
XM_011522641.1:c.1976G>A	XP_011520943.1:p.Cys659Tyr
NM_000548.4:c.2087G>A	NP_000539.2:p.Cys696Tyr
NM_001077183.2:c.2087G>A	NP_001070651.1:p.Cys696Tyr
NM_001114382.2:c.2087G>A	NP_001107854.1:p.Cys696Tyr
NM_001318827.1:c.1976G>A	NP_001305756.1:p.Cys659Tyr
NM_001318829.1:c.1940G>A	NP_001305758.1:p.Cys647Tyr
NM_001318831.1:c.1487G>A	NP_001305760.1:p.Cys496Tyr
NM_001318832.1:c.2120G>A	NP_001305761.1:p.Cys707Tyr
NM_001363528.1:c.2087G>A	NP_001350457.1:p.Cys696Tyr
NM_021055.2:c.2087G>A	NP_066399.2:p.Cys696Tyr
XM_005255531.4:c.2087G>A	XP_005255588.2:p.Cys696Tyr
XM_011522636.2:c.2087G>A	XP_011520938.1:p.Cys696Tyr
XM_011522637.2:c.2087G>A	XP_011520939.1:p.Cys696Tyr
XM_011522638.2:c.2249G>A	XP_011520940.2:p.Cys750Tyr
XM_011522639.2:c.2087G>A	XP_011520941.1:p.Cys696Tyr
XM_011522640.2:c.2087G>A	XP_011520942.1:p.Cys696Tyr
XM_017023615.1:c.2087G>A	XP_016879104.1:p.Cys696Tyr
XM_017023616.1:c.2087G>A	XP_016879105.1:p.Cys696Tyr
XM_017023617.1:c.2249G>A	XP_016879106.1:p.Cys750Tyr
XM_017023618.1:c.743G>A	XP_016879107.1:p.Cys248Tyr
XM_024450413.1:c.2087G>A	XP_024306181.1:p.Cys696Tyr
NM_000548.5:c.2087G>A MANE Select	NP_000539.2:p.Cys696Tyr
NM_001370404.1:c.2087G>A	NP_001357333.1:p.Cys696Tyr
NM_001370405.1:c.2087G>A	NP_001357334.1:p.Cys696Tyr
NM_001077183.3:c.2087G>A	NP_001070651.1:p.Cys696Tyr
NM_001114382.3:c.2087G>A	NP_001107854.1:p.Cys696Tyr
NM_001318827.2:c.1976G>A	NP_001305756.1:p.Cys659Tyr
NM_001318829.2:c.1940G>A	NP_001305758.1:p.Cys647Tyr
NM_001318831.2:c.1487G>A	NP_001305760.1:p.Cys496Tyr
NM_001318832.2:c.2120G>A	NP_001305761.1:p.Cys707Tyr
NM_001363528.2:c.2087G>A	NP_001350457.1:p.Cys696Tyr
NM_021055.3:c.2087G>A	NP_066399.2:p.Cys696Tyr