Canonical Allele Identifier: CA16615150

Gene: TSC2

Linked Data

• ClinVar Variation Id: 406054
• ClinVar RCV Id: RCV000464141
• dbSNP Id: rs1060500951
• gnomAD v4: 16-2084247-A-G
• MyVariant Identifiers: chr16:g.2134248A>G (hg19) ; chr16:g.2084247A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084247A>G , CM000678.2:g.2084247A>G	GRCh38
NC_000016.9:g.2134248A>G , CM000678.1:g.2134248A>G	GRCh37
NC_000016.8:g.2074249A>G	NCBI36
NG_005895.1:g.39942A>G , LRG_487:g.39942A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2374A>G	ENSP00000455997.2:n.*2374A>G
ENST00000642206.2:c.3872A>G	ENSP00000495146.2:p.Gln1291Arg
ENST00000642365.2:c.4022A>G	ENSP00000495459.2:p.Gln1341Arg
ENST00000644417.2:c.*4405A>G	ENSP00000493912.2:n.*4405A>G
ENST00000646464.2:c.*6774A>G	ENSP00000496610.2:n.*6774A>G
ENST00000219476.9:c.4025A>G MANE Select	ENSP00000219476.3:p.Gln1342Arg
ENST00000350773.9:c.3956A>G	ENSP00000344383.4:p.Gln1319Arg
ENST00000401874.7:c.3824A>G	ENSP00000384468.2:p.Gln1275Arg
ENST00000568454.6:c.3857A>G	ENSP00000454487.1:p.Gln1286Arg
ENST00000569110.2:c.261A>G
ENST00000569930.2:n.1907A>G
ENST00000642365.1:c.2679A>G
ENST00000642561.1:c.3896A>G	ENSP00000495099.1:p.Gln1299Arg
ENST00000642728.1:n.207A>G
ENST00000642797.1:c.3827A>G	ENSP00000493846.1:p.Gln1276Arg
ENST00000642936.1:c.3893A>G	ENSP00000494514.1:p.Gln1298Arg
ENST00000643088.1:c.3824A>G	ENSP00000494747.1:p.Gln1275Arg
ENST00000643177.1:n.39A>G
ENST00000643426.1:n.1673A>G
ENST00000643533.1:n.466A>G
ENST00000643946.1:c.3956A>G	ENSP00000495927.1:p.Gln1319Arg
ENST00000644043.1:c.3896A>G	ENSP00000496262.1:p.Gln1299Arg
ENST00000644329.1:c.3824A>G	ENSP00000496611.1:p.Gln1275Arg
ENST00000644335.1:c.3827A>G	ENSP00000496317.1:p.Gln1276Arg
ENST00000644399.1:c.3946A>G
ENST00000645024.1:n.2109A>G
ENST00000645186.1:c.268A>G
ENST00000646388.1:c.4025A>G	ENSP00000495921.1:p.Gln1342Arg
ENST00000646634.1:n.2840A>G
ENST00000646674.1:n.1277A>G
ENST00000647042.1:n.1248A>G
ENST00000647180.1:n.1138A>G
ENST00000219476.7:c.4025A>G	ENSP00000219476.3:p.Gln1342Arg
ENST00000350773.8:c.3956A>G	ENSP00000344383.4:p.Gln1319Arg
ENST00000382538.10:c.3680A>G	ENSP00000371978.6:p.Gln1227Arg
ENST00000401874.6:c.3824A>G	ENSP00000384468.2:p.Gln1275Arg
ENST00000439117.6:c.*3192A>G	ENSP00000406980.2:n.*3192A>G
ENST00000439673.6:c.3716A>G	ENSP00000399232.2:p.Gln1239Arg
ENST00000497886.5:n.1783A>G
ENST00000568454.5:c.3857A>G	ENSP00000454487.1:p.Gln1286Arg
ENST00000569110.1:c.207A>G
ENST00000569930.1:n.1140A>G
NM_000548.3:c.4025A>G , LRG_487t1:c.4025A>G	NP_000539.2:p.Gln1342Arg
NM_001077183.1:c.3824A>G	NP_001070651.1:p.Gln1275Arg
NM_001114382.1:c.3956A>G	NP_001107854.1:p.Gln1319Arg
XM_005255529.3:c.3896A>G	XP_005255586.2:p.Gln1299Arg
XM_005255531.3:c.3827A>G	XP_005255588.2:p.Gln1276Arg
XM_011522636.1:c.4079A>G	XP_011520938.1:p.Gln1360Arg
XM_011522637.1:c.4076A>G	XP_011520939.1:p.Gln1359Arg
XM_011522638.1:c.3968A>G	XP_011520940.1:p.Gln1323Arg
XM_011522639.1:c.3950A>G	XP_011520941.1:p.Gln1317Arg
XM_011522640.1:c.3947A>G	XP_011520942.1:p.Gln1316Arg
XM_011522641.1:c.3716A>G	XP_011520943.1:p.Gln1239Arg
NM_000548.4:c.4025A>G	NP_000539.2:p.Gln1342Arg
NM_001077183.2:c.3824A>G	NP_001070651.1:p.Gln1275Arg
NM_001114382.2:c.3956A>G	NP_001107854.1:p.Gln1319Arg
NM_001318827.1:c.3716A>G	NP_001305756.1:p.Gln1239Arg
NM_001318829.1:c.3680A>G	NP_001305758.1:p.Gln1227Arg
NM_001318831.1:c.3293A>G	NP_001305760.1:p.Gln1098Arg
NM_001318832.1:c.3857A>G	NP_001305761.1:p.Gln1286Arg
NM_001363528.1:c.3827A>G	NP_001350457.1:p.Gln1276Arg
NM_021055.2:c.3896A>G	NP_066399.2:p.Gln1299Arg
XM_005255531.4:c.3827A>G	XP_005255588.2:p.Gln1276Arg
XM_011522636.2:c.4079A>G	XP_011520938.1:p.Gln1360Arg
XM_011522637.2:c.4076A>G	XP_011520939.1:p.Gln1359Arg
XM_011522638.2:c.4241A>G	XP_011520940.2:p.Gln1414Arg
XM_011522639.2:c.3950A>G	XP_011520941.1:p.Gln1317Arg
XM_011522640.2:c.3947A>G	XP_011520942.1:p.Gln1316Arg
XM_017023615.1:c.4022A>G	XP_016879104.1:p.Gln1341Arg
XM_017023616.1:c.3893A>G	XP_016879105.1:p.Gln1298Arg
XM_017023617.1:c.3989A>G	XP_016879106.1:p.Gln1330Arg
XM_017023618.1:c.2735A>G	XP_016879107.1:p.Gln912Arg
XM_024450413.1:c.3824A>G	XP_024306181.1:p.Gln1275Arg
NM_000548.5:c.4025A>G MANE Select	NP_000539.2:p.Gln1342Arg
NM_001370404.1:c.3893A>G	NP_001357333.1:p.Gln1298Arg
NM_001370405.1:c.3896A>G	NP_001357334.1:p.Gln1299Arg
NM_001077183.3:c.3824A>G	NP_001070651.1:p.Gln1275Arg
NM_001114382.3:c.3956A>G	NP_001107854.1:p.Gln1319Arg
NM_001318827.2:c.3716A>G	NP_001305756.1:p.Gln1239Arg
NM_001318829.2:c.3680A>G	NP_001305758.1:p.Gln1227Arg
NM_001318831.2:c.3293A>G	NP_001305760.1:p.Gln1098Arg
NM_001318832.2:c.3857A>G	NP_001305761.1:p.Gln1286Arg
NM_001363528.2:c.3827A>G	NP_001350457.1:p.Gln1276Arg
NM_021055.3:c.3896A>G	NP_066399.2:p.Gln1299Arg