Canonical Allele Identifier: CA394291863

Gene: TSC2

Linked Data

• dbSNP Id: rs1233400271
• gnomAD v2: 16-2131626-A-G
• gnomAD v4: 16-2081625-A-G
• MyVariant Identifiers: chr16:g.2131626A>G (hg19) ; chr16:g.2081625A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081625A>G , CM000678.2:g.2081625A>G	GRCh38
NC_000016.9:g.2131626A>G , CM000678.1:g.2131626A>G	GRCh37
NC_000016.8:g.2071627A>G	NCBI36
NG_005895.1:g.37320A>G , LRG_487:g.37320A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2059A>G	ENSP00000455997.2:n.*2059A>G
ENST00000642206.2:c.3557A>G	ENSP00000495146.2:p.Asn1186Ser
ENST00000642365.2:c.3638A>G	ENSP00000495459.2:p.Asn1213Ser
ENST00000644417.2:c.*4090A>G	ENSP00000493912.2:n.*4090A>G
ENST00000646464.2:c.*4563A>G	ENSP00000496610.2:n.*4563A>G
ENST00000219476.9:c.3641A>G MANE Select	ENSP00000219476.3:p.Asn1214Ser
ENST00000350773.9:c.3641A>G	ENSP00000344383.4:p.Asn1214Ser
ENST00000401874.7:c.3509A>G	ENSP00000384468.2:p.Asn1170Ser
ENST00000568454.6:c.3542A>G	ENSP00000454487.1:p.Asn1181Ser
ENST00000642365.1:c.2295A>G
ENST00000642561.1:c.3512A>G	ENSP00000495099.1:p.Asn1171Ser
ENST00000642797.1:c.3512A>G	ENSP00000493846.1:p.Asn1171Ser
ENST00000642936.1:c.3509A>G	ENSP00000494514.1:p.Asn1170Ser
ENST00000643088.1:c.3509A>G	ENSP00000494747.1:p.Asn1170Ser
ENST00000643426.1:n.1289A>G
ENST00000643533.1:n.151A>G
ENST00000643946.1:c.3641A>G	ENSP00000495927.1:p.Asn1214Ser
ENST00000644043.1:c.3512A>G	ENSP00000496262.1:p.Asn1171Ser
ENST00000644329.1:c.3509A>G	ENSP00000496611.1:p.Asn1170Ser
ENST00000644335.1:c.3512A>G	ENSP00000496317.1:p.Asn1171Ser
ENST00000644399.1:c.3631A>G
ENST00000644722.1:n.787A>G
ENST00000645024.1:n.1794A>G
ENST00000646388.1:c.3641A>G	ENSP00000495921.1:p.Asn1214Ser
ENST00000646634.1:n.2525A>G
ENST00000646674.1:n.256A>G
ENST00000647042.1:n.933A>G
ENST00000647180.1:n.121A>G
ENST00000219476.7:c.3641A>G	ENSP00000219476.3:p.Asn1214Ser
ENST00000350773.8:c.3641A>G	ENSP00000344383.4:p.Asn1214Ser
ENST00000382538.10:c.3365A>G	ENSP00000371978.6:p.Asn1122Ser
ENST00000401874.6:c.3509A>G	ENSP00000384468.2:p.Asn1170Ser
ENST00000439117.6:c.*2808A>G	ENSP00000406980.2:n.*2808A>G
ENST00000439673.6:c.3401A>G	ENSP00000399232.2:p.Asn1134Ser
ENST00000497886.5:n.1468A>G
ENST00000568454.5:c.3542A>G	ENSP00000454487.1:p.Asn1181Ser
NM_000548.3:c.3641A>G , LRG_487t1:c.3641A>G	NP_000539.2:p.Asn1214Ser
NM_001077183.1:c.3509A>G	NP_001070651.1:p.Asn1170Ser
NM_001114382.1:c.3641A>G	NP_001107854.1:p.Asn1214Ser
XM_005255529.3:c.3512A>G	XP_005255586.2:p.Asn1171Ser
XM_005255531.3:c.3512A>G	XP_005255588.2:p.Asn1171Ser
XM_011522636.1:c.3641A>G	XP_011520938.1:p.Asn1214Ser
XM_011522637.1:c.3638A>G	XP_011520939.1:p.Asn1213Ser
XM_011522638.1:c.3530A>G	XP_011520940.1:p.Asn1177Ser
XM_011522639.1:c.3512A>G	XP_011520941.1:p.Asn1171Ser
XM_011522640.1:c.3509A>G	XP_011520942.1:p.Asn1170Ser
XM_011522641.1:c.3401A>G	XP_011520943.1:p.Asn1134Ser
NM_000548.4:c.3641A>G	NP_000539.2:p.Asn1214Ser
NM_001077183.2:c.3509A>G	NP_001070651.1:p.Asn1170Ser
NM_001114382.2:c.3641A>G	NP_001107854.1:p.Asn1214Ser
NM_001318827.1:c.3401A>G	NP_001305756.1:p.Asn1134Ser
NM_001318829.1:c.3365A>G	NP_001305758.1:p.Asn1122Ser
NM_001318831.1:c.2909A>G	NP_001305760.1:p.Asn970Ser
NM_001318832.1:c.3542A>G	NP_001305761.1:p.Asn1181Ser
NM_001363528.1:c.3512A>G	NP_001350457.1:p.Asn1171Ser
NM_021055.2:c.3512A>G	NP_066399.2:p.Asn1171Ser
XM_005255531.4:c.3512A>G	XP_005255588.2:p.Asn1171Ser
XM_011522636.2:c.3641A>G	XP_011520938.1:p.Asn1214Ser
XM_011522637.2:c.3638A>G	XP_011520939.1:p.Asn1213Ser
XM_011522638.2:c.3803A>G	XP_011520940.2:p.Asn1268Ser
XM_011522639.2:c.3512A>G	XP_011520941.1:p.Asn1171Ser
XM_011522640.2:c.3509A>G	XP_011520942.1:p.Asn1170Ser
XM_017023615.1:c.3638A>G	XP_016879104.1:p.Asn1213Ser
XM_017023616.1:c.3509A>G	XP_016879105.1:p.Asn1170Ser
XM_017023617.1:c.3674A>G	XP_016879106.1:p.Asn1225Ser
XM_017023618.1:c.2297A>G	XP_016879107.1:p.Asn766Ser
XM_024450413.1:c.3509A>G	XP_024306181.1:p.Asn1170Ser
NM_000548.5:c.3641A>G MANE Select	NP_000539.2:p.Asn1214Ser
NM_001370404.1:c.3509A>G	NP_001357333.1:p.Asn1170Ser
NM_001370405.1:c.3512A>G	NP_001357334.1:p.Asn1171Ser
NM_001077183.3:c.3509A>G	NP_001070651.1:p.Asn1170Ser
NM_001114382.3:c.3641A>G	NP_001107854.1:p.Asn1214Ser
NM_001318827.2:c.3401A>G	NP_001305756.1:p.Asn1134Ser
NM_001318829.2:c.3365A>G	NP_001305758.1:p.Asn1122Ser
NM_001318831.2:c.2909A>G	NP_001305760.1:p.Asn970Ser
NM_001318832.2:c.3542A>G	NP_001305761.1:p.Asn1181Ser
NM_001363528.2:c.3512A>G	NP_001350457.1:p.Asn1171Ser
NM_021055.3:c.3512A>G	NP_066399.2:p.Asn1171Ser