Canonical Allele Identifier: CA394277316

Gene: TSC2

Linked Data

• dbSNP Id: rs2088924660
• gnomAD v4: 16-2074274-C-G
• MyVariant Identifiers: chr16:g.2124275C>G (hg19) ; chr16:g.2074274C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2074274C>G , CM000678.2:g.2074274C>G	GRCh38
NC_000016.9:g.2124275C>G , CM000678.1:g.2124275C>G	GRCh37
NC_000016.8:g.2064276C>G	NCBI36
NG_005895.1:g.29969C>G , LRG_487:g.29969C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*977C>G	ENSP00000455997.2:n.*977C>G
ENST00000642206.2:c.2475C>G	ENSP00000495146.2:p.Ile825Met
ENST00000642365.2:c.2430C>G	ENSP00000495459.2:p.Ile810Met
ENST00000644417.2:c.*1867C>G	ENSP00000493912.2:n.*1867C>G
ENST00000646464.2:c.*2075C>G	ENSP00000496610.2:n.*2075C>G
ENST00000219476.9:c.2430C>G MANE Select	ENSP00000219476.3:p.Ile810Met
ENST00000350773.9:c.2430C>G	ENSP00000344383.4:p.Ile810Met
ENST00000401874.7:c.2430C>G	ENSP00000384468.2:p.Ile810Met
ENST00000563346.2:n.608C>G
ENST00000568454.6:c.2463C>G	ENSP00000454487.1:p.Ile821Met
ENST00000642365.1:c.1087C>G
ENST00000642561.1:c.2430C>G	ENSP00000495099.1:p.Ile810Met
ENST00000642797.1:c.2430C>G	ENSP00000493846.1:p.Ile810Met
ENST00000642936.1:c.2430C>G	ENSP00000494514.1:p.Ile810Met
ENST00000643088.1:c.2430C>G	ENSP00000494747.1:p.Ile810Met
ENST00000643298.1:c.*1932C>G	ENSP00000494393.1:n.*1932C>G
ENST00000643946.1:c.2430C>G	ENSP00000495927.1:p.Ile810Met
ENST00000644043.1:c.2430C>G	ENSP00000496262.1:p.Ile810Met
ENST00000644329.1:c.2430C>G	ENSP00000496611.1:p.Ile810Met
ENST00000644335.1:c.2430C>G	ENSP00000496317.1:p.Ile810Met
ENST00000644399.1:c.2423C>G
ENST00000644847.1:n.1422C>G
ENST00000645024.1:n.712C>G
ENST00000645552.1:n.710C>G
ENST00000646388.1:c.2430C>G	ENSP00000495921.1:p.Ile810Met
ENST00000646634.1:n.1443C>G
ENST00000219476.7:c.2430C>G	ENSP00000219476.3:p.Ile810Met
ENST00000350773.8:c.2430C>G	ENSP00000344383.4:p.Ile810Met
ENST00000382538.10:c.2283C>G	ENSP00000371978.6:p.Ile761Met
ENST00000401874.6:c.2430C>G	ENSP00000384468.2:p.Ile810Met
ENST00000439117.6:c.*1729C>G	ENSP00000406980.2:n.*1729C>G
ENST00000439673.6:c.2319C>G	ENSP00000399232.2:p.Ile773Met
ENST00000463808.1:n.464C>G
ENST00000563346.1:n.499C>G
ENST00000568454.5:c.2463C>G	ENSP00000454487.1:p.Ile821Met
NM_000548.3:c.2430C>G , LRG_487t1:c.2430C>G	NP_000539.2:p.Ile810Met
NM_001077183.1:c.2430C>G	NP_001070651.1:p.Ile810Met
NM_001114382.1:c.2430C>G	NP_001107854.1:p.Ile810Met
XM_005255529.3:c.2430C>G	XP_005255586.2:p.Ile810Met
XM_005255531.3:c.2430C>G	XP_005255588.2:p.Ile810Met
XM_011522636.1:c.2430C>G	XP_011520938.1:p.Ile810Met
XM_011522637.1:c.2430C>G	XP_011520939.1:p.Ile810Met
XM_011522638.1:c.2319C>G	XP_011520940.1:p.Ile773Met
XM_011522639.1:c.2430C>G	XP_011520941.1:p.Ile810Met
XM_011522640.1:c.2430C>G	XP_011520942.1:p.Ile810Met
XM_011522641.1:c.2319C>G	XP_011520943.1:p.Ile773Met
NM_000548.4:c.2430C>G	NP_000539.2:p.Ile810Met
NM_001077183.2:c.2430C>G	NP_001070651.1:p.Ile810Met
NM_001114382.2:c.2430C>G	NP_001107854.1:p.Ile810Met
NM_001318827.1:c.2319C>G	NP_001305756.1:p.Ile773Met
NM_001318829.1:c.2283C>G	NP_001305758.1:p.Ile761Met
NM_001318831.1:c.1830C>G	NP_001305760.1:p.Ile610Met
NM_001318832.1:c.2463C>G	NP_001305761.1:p.Ile821Met
NM_001363528.1:c.2430C>G	NP_001350457.1:p.Ile810Met
NM_021055.2:c.2430C>G	NP_066399.2:p.Ile810Met
XM_005255531.4:c.2430C>G	XP_005255588.2:p.Ile810Met
XM_011522636.2:c.2430C>G	XP_011520938.1:p.Ile810Met
XM_011522637.2:c.2430C>G	XP_011520939.1:p.Ile810Met
XM_011522638.2:c.2592C>G	XP_011520940.2:p.Ile864Met
XM_011522639.2:c.2430C>G	XP_011520941.1:p.Ile810Met
XM_011522640.2:c.2430C>G	XP_011520942.1:p.Ile810Met
XM_017023615.1:c.2430C>G	XP_016879104.1:p.Ile810Met
XM_017023616.1:c.2430C>G	XP_016879105.1:p.Ile810Met
XM_017023617.1:c.2592C>G	XP_016879106.1:p.Ile864Met
XM_017023618.1:c.1086C>G	XP_016879107.1:p.Ile362Met
XM_024450413.1:c.2430C>G	XP_024306181.1:p.Ile810Met
NM_000548.5:c.2430C>G MANE Select	NP_000539.2:p.Ile810Met
NM_001370404.1:c.2430C>G	NP_001357333.1:p.Ile810Met
NM_001370405.1:c.2430C>G	NP_001357334.1:p.Ile810Met
NM_001077183.3:c.2430C>G	NP_001070651.1:p.Ile810Met
NM_001114382.3:c.2430C>G	NP_001107854.1:p.Ile810Met
NM_001318827.2:c.2319C>G	NP_001305756.1:p.Ile773Met
NM_001318829.2:c.2283C>G	NP_001305758.1:p.Ile761Met
NM_001318831.2:c.1830C>G	NP_001305760.1:p.Ile610Met
NM_001318832.2:c.2463C>G	NP_001305761.1:p.Ile821Met
NM_001363528.2:c.2430C>G	NP_001350457.1:p.Ile810Met
NM_021055.3:c.2430C>G	NP_066399.2:p.Ile810Met