Canonical Allele Identifier: CA394291852

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2131625A>G (hg19) ; chr16:g.2081624A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081624A>G , CM000678.2:g.2081624A>G	GRCh38
NC_000016.9:g.2131625A>G , CM000678.1:g.2131625A>G	GRCh37
NC_000016.8:g.2071626A>G	NCBI36
NG_005895.1:g.37319A>G , LRG_487:g.37319A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2058A>G	ENSP00000455997.2:n.*2058A>G
ENST00000642206.2:c.3556A>G	ENSP00000495146.2:p.Asn1186Asp
ENST00000642365.2:c.3637A>G	ENSP00000495459.2:p.Asn1213Asp
ENST00000644417.2:c.*4089A>G	ENSP00000493912.2:n.*4089A>G
ENST00000646464.2:c.*4562A>G	ENSP00000496610.2:n.*4562A>G
ENST00000219476.9:c.3640A>G MANE Select	ENSP00000219476.3:p.Asn1214Asp
ENST00000350773.9:c.3640A>G	ENSP00000344383.4:p.Asn1214Asp
ENST00000401874.7:c.3508A>G	ENSP00000384468.2:p.Asn1170Asp
ENST00000568454.6:c.3541A>G	ENSP00000454487.1:p.Asn1181Asp
ENST00000642365.1:c.2294A>G
ENST00000642561.1:c.3511A>G	ENSP00000495099.1:p.Asn1171Asp
ENST00000642797.1:c.3511A>G	ENSP00000493846.1:p.Asn1171Asp
ENST00000642936.1:c.3508A>G	ENSP00000494514.1:p.Asn1170Asp
ENST00000643088.1:c.3508A>G	ENSP00000494747.1:p.Asn1170Asp
ENST00000643426.1:n.1288A>G
ENST00000643533.1:n.150A>G
ENST00000643946.1:c.3640A>G	ENSP00000495927.1:p.Asn1214Asp
ENST00000644043.1:c.3511A>G	ENSP00000496262.1:p.Asn1171Asp
ENST00000644329.1:c.3508A>G	ENSP00000496611.1:p.Asn1170Asp
ENST00000644335.1:c.3511A>G	ENSP00000496317.1:p.Asn1171Asp
ENST00000644399.1:c.3630A>G
ENST00000644722.1:n.786A>G
ENST00000645024.1:n.1793A>G
ENST00000646388.1:c.3640A>G	ENSP00000495921.1:p.Asn1214Asp
ENST00000646634.1:n.2524A>G
ENST00000646674.1:n.255A>G
ENST00000647042.1:n.932A>G
ENST00000647180.1:n.120A>G
ENST00000219476.7:c.3640A>G	ENSP00000219476.3:p.Asn1214Asp
ENST00000350773.8:c.3640A>G	ENSP00000344383.4:p.Asn1214Asp
ENST00000382538.10:c.3364A>G	ENSP00000371978.6:p.Asn1122Asp
ENST00000401874.6:c.3508A>G	ENSP00000384468.2:p.Asn1170Asp
ENST00000439117.6:c.*2807A>G	ENSP00000406980.2:n.*2807A>G
ENST00000439673.6:c.3400A>G	ENSP00000399232.2:p.Asn1134Asp
ENST00000497886.5:n.1467A>G
ENST00000568454.5:c.3541A>G	ENSP00000454487.1:p.Asn1181Asp
NM_000548.3:c.3640A>G , LRG_487t1:c.3640A>G	NP_000539.2:p.Asn1214Asp
NM_001077183.1:c.3508A>G	NP_001070651.1:p.Asn1170Asp
NM_001114382.1:c.3640A>G	NP_001107854.1:p.Asn1214Asp
XM_005255529.3:c.3511A>G	XP_005255586.2:p.Asn1171Asp
XM_005255531.3:c.3511A>G	XP_005255588.2:p.Asn1171Asp
XM_011522636.1:c.3640A>G	XP_011520938.1:p.Asn1214Asp
XM_011522637.1:c.3637A>G	XP_011520939.1:p.Asn1213Asp
XM_011522638.1:c.3529A>G	XP_011520940.1:p.Asn1177Asp
XM_011522639.1:c.3511A>G	XP_011520941.1:p.Asn1171Asp
XM_011522640.1:c.3508A>G	XP_011520942.1:p.Asn1170Asp
XM_011522641.1:c.3400A>G	XP_011520943.1:p.Asn1134Asp
NM_000548.4:c.3640A>G	NP_000539.2:p.Asn1214Asp
NM_001077183.2:c.3508A>G	NP_001070651.1:p.Asn1170Asp
NM_001114382.2:c.3640A>G	NP_001107854.1:p.Asn1214Asp
NM_001318827.1:c.3400A>G	NP_001305756.1:p.Asn1134Asp
NM_001318829.1:c.3364A>G	NP_001305758.1:p.Asn1122Asp
NM_001318831.1:c.2908A>G	NP_001305760.1:p.Asn970Asp
NM_001318832.1:c.3541A>G	NP_001305761.1:p.Asn1181Asp
NM_001363528.1:c.3511A>G	NP_001350457.1:p.Asn1171Asp
NM_021055.2:c.3511A>G	NP_066399.2:p.Asn1171Asp
XM_005255531.4:c.3511A>G	XP_005255588.2:p.Asn1171Asp
XM_011522636.2:c.3640A>G	XP_011520938.1:p.Asn1214Asp
XM_011522637.2:c.3637A>G	XP_011520939.1:p.Asn1213Asp
XM_011522638.2:c.3802A>G	XP_011520940.2:p.Asn1268Asp
XM_011522639.2:c.3511A>G	XP_011520941.1:p.Asn1171Asp
XM_011522640.2:c.3508A>G	XP_011520942.1:p.Asn1170Asp
XM_017023615.1:c.3637A>G	XP_016879104.1:p.Asn1213Asp
XM_017023616.1:c.3508A>G	XP_016879105.1:p.Asn1170Asp
XM_017023617.1:c.3673A>G	XP_016879106.1:p.Asn1225Asp
XM_017023618.1:c.2296A>G	XP_016879107.1:p.Asn766Asp
XM_024450413.1:c.3508A>G	XP_024306181.1:p.Asn1170Asp
NM_000548.5:c.3640A>G MANE Select	NP_000539.2:p.Asn1214Asp
NM_001370404.1:c.3508A>G	NP_001357333.1:p.Asn1170Asp
NM_001370405.1:c.3511A>G	NP_001357334.1:p.Asn1171Asp
NM_001077183.3:c.3508A>G	NP_001070651.1:p.Asn1170Asp
NM_001114382.3:c.3640A>G	NP_001107854.1:p.Asn1214Asp
NM_001318827.2:c.3400A>G	NP_001305756.1:p.Asn1134Asp
NM_001318829.2:c.3364A>G	NP_001305758.1:p.Asn1122Asp
NM_001318831.2:c.2908A>G	NP_001305760.1:p.Asn970Asp
NM_001318832.2:c.3541A>G	NP_001305761.1:p.Asn1181Asp
NM_001363528.2:c.3511A>G	NP_001350457.1:p.Asn1171Asp
NM_021055.3:c.3511A>G	NP_066399.2:p.Asn1171Asp