Canonical Allele Identifier: CA021636

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49345
• ClinVar RCV Id: RCV000042605 ; RCV001068320
• dbSNP Id: rs45484794
• MyVariant Identifiers: chr16:g.2138031A>G (hg19) ; chr16:g.2088030A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088030A>G , CM000678.2:g.2088030A>G	GRCh38
NC_000016.9:g.2138031A>G , CM000678.1:g.2138031A>G	GRCh37
NC_000016.8:g.2078032A>G	NCBI36
NG_005895.1:g.43725A>G , LRG_487:g.43725A>G
NG_008617.1:g.55191T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3418-18A>G	ENSP00000455997.2:n.*3418-18A>G
ENST00000642206.2:c.4916-18A>G	ENSP00000495146.2:n.4916-18A>G
ENST00000642365.2:c.5066-18A>G	ENSP00000495459.2:n.5066-18A>G
ENST00000644417.2:c.*5582-18A>G	ENSP00000493912.2:n.*5582-18A>G
ENST00000646464.2:c.*7818-18A>G	ENSP00000496610.2:n.*7818-18A>G
ENST00000219476.9:c.5069-18A>G MANE Select	ENSP00000219476.3:n.5069-18A>G
ENST00000350773.9:c.5000-18A>G	ENSP00000344383.4:n.5000-18A>G
ENST00000401874.7:c.4868-18A>G	ENSP00000384468.2:n.4868-18A>G
ENST00000568454.6:c.4901-18A>G	ENSP00000454487.1:n.4901-18A>G
ENST00000569110.2:c.1292-18A>G
ENST00000569930.2:n.2951-18A>G
ENST00000642365.1:c.3723-18A>G
ENST00000642561.1:c.4940-18A>G	ENSP00000495099.1:n.4940-18A>G
ENST00000642791.1:n.666-18A>G
ENST00000642797.1:c.4871-18A>G	ENSP00000493846.1:n.4871-18A>G
ENST00000642936.1:c.4937-18A>G	ENSP00000494514.1:n.4937-18A>G
ENST00000643088.1:c.4862-18A>G	ENSP00000494747.1:n.4862-18A>G
ENST00000643177.1:n.1171A>G
ENST00000643426.1:n.2717-18A>G
ENST00000643946.1:c.4994-18A>G	ENSP00000495927.1:n.4994-18A>G
ENST00000644043.1:c.4940-18A>G	ENSP00000496262.1:n.4940-18A>G
ENST00000644278.1:n.639A>G
ENST00000644329.1:c.4868-18A>G	ENSP00000496611.1:n.4868-18A>G
ENST00000644335.1:c.4865-18A>G	ENSP00000496317.1:n.4865-18A>G
ENST00000644399.1:c.4990-18A>G
ENST00000645024.1:n.3153-18A>G
ENST00000646388.1:c.5063-18A>G	ENSP00000495921.1:n.5063-18A>G
ENST00000646634.1:n.3884-18A>G
ENST00000646674.1:n.2321-18A>G
ENST00000647042.1:n.2292-18A>G
ENST00000647180.1:n.2182-18A>G
ENST00000219476.7:c.5069-18A>G	ENSP00000219476.3:n.5069-18A>G
ENST00000350773.8:c.5000-18A>G	ENSP00000344383.4:n.5000-18A>G
ENST00000382538.10:c.4724-18A>G	ENSP00000371978.6:n.4724-18A>G
ENST00000401874.6:c.4868-18A>G	ENSP00000384468.2:n.4868-18A>G
ENST00000439117.6:c.*4236-18A>G	ENSP00000406980.2:n.*4236-18A>G
ENST00000439673.6:c.4760-18A>G	ENSP00000399232.2:n.4760-18A>G
ENST00000497886.5:n.2792-18A>G
ENST00000568454.5:c.4901-18A>G	ENSP00000454487.1:n.4901-18A>G
ENST00000569110.1:c.1251-18A>G
ENST00000569930.1:n.2184-18A>G
NM_000548.3:c.5069-18A>G , LRG_487t1:c.5069-18A>G	NP_000539.2:n.5069-18A>G
NM_001077183.1:c.4868-18A>G	NP_001070651.1:n.4868-18A>G
NM_001114382.1:c.5000-18A>G	NP_001107854.1:n.5000-18A>G
XM_005255529.3:c.4940-18A>G	XP_005255586.2:n.4940-18A>G
XM_005255531.3:c.4871-18A>G	XP_005255588.2:n.4871-18A>G
XM_011522636.1:c.5123-18A>G	XP_011520938.1:n.5123-18A>G
XM_011522637.1:c.5120-18A>G	XP_011520939.1:n.5120-18A>G
XM_011522638.1:c.5012-18A>G	XP_011520940.1:n.5012-18A>G
XM_011522639.1:c.4994-18A>G	XP_011520941.1:n.4994-18A>G
XM_011522640.1:c.4991-18A>G	XP_011520942.1:n.4991-18A>G
XM_011522641.1:c.4760-18A>G	XP_011520943.1:n.4760-18A>G
NM_000548.4:c.5069-18A>G	NP_000539.2:n.5069-18A>G
NM_001077183.2:c.4868-18A>G	NP_001070651.1:n.4868-18A>G
NM_001114382.2:c.5000-18A>G	NP_001107854.1:n.5000-18A>G
NM_001318827.1:c.4760-18A>G	NP_001305756.1:n.4760-18A>G
NM_001318829.1:c.4724-18A>G	NP_001305758.1:n.4724-18A>G
NM_001318831.1:c.4337-18A>G	NP_001305760.1:n.4337-18A>G
NM_001318832.1:c.4901-18A>G	NP_001305761.1:n.4901-18A>G
NM_001363528.1:c.4871-18A>G	NP_001350457.1:n.4871-18A>G
NM_021055.2:c.4940-18A>G	NP_066399.2:n.4940-18A>G
XM_005255531.4:c.4871-18A>G	XP_005255588.2:n.4871-18A>G
XM_011522636.2:c.5123-18A>G	XP_011520938.1:n.5123-18A>G
XM_011522637.2:c.5120-18A>G	XP_011520939.1:n.5120-18A>G
XM_011522638.2:c.5285-18A>G	XP_011520940.2:n.5285-18A>G
XM_011522639.2:c.4994-18A>G	XP_011520941.1:n.4994-18A>G
XM_011522640.2:c.4991-18A>G	XP_011520942.1:n.4991-18A>G
XM_017023615.1:c.5066-18A>G	XP_016879104.1:n.5066-18A>G
XM_017023616.1:c.4937-18A>G	XP_016879105.1:n.4937-18A>G
XM_017023617.1:c.5033-18A>G	XP_016879106.1:n.5033-18A>G
XM_017023618.1:c.3779-18A>G	XP_016879107.1:n.3779-18A>G
XM_024450413.1:c.4868-18A>G	XP_024306181.1:n.4868-18A>G
NM_000548.5:c.5069-18A>G MANE Select	NP_000539.2:n.5069-18A>G
NM_001370404.1:c.4937-18A>G	NP_001357333.1:n.4937-18A>G
NM_001370405.1:c.4940-18A>G	NP_001357334.1:n.4940-18A>G
NM_001077183.3:c.4868-18A>G	NP_001070651.1:n.4868-18A>G
NM_001114382.3:c.5000-18A>G	NP_001107854.1:n.5000-18A>G
NM_001318827.2:c.4760-18A>G	NP_001305756.1:n.4760-18A>G
NM_001318829.2:c.4724-18A>G	NP_001305758.1:n.4724-18A>G
NM_001318831.2:c.4337-18A>G	NP_001305760.1:n.4337-18A>G
NM_001318832.2:c.4901-18A>G	NP_001305761.1:n.4901-18A>G
NM_001363528.2:c.4871-18A>G	NP_001350457.1:n.4871-18A>G
NM_021055.3:c.4940-18A>G	NP_066399.2:n.4940-18A>G