Canonical Allele Identifier: CA394315941

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138558G>C (hg19) ; chr16:g.2088557G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088557G>C , CM000678.2:g.2088557G>C	GRCh38
NC_000016.9:g.2138558G>C , CM000678.1:g.2138558G>C	GRCh37
NC_000016.8:g.2078559G>C	NCBI36
NG_005895.1:g.44252G>C , LRG_487:g.44252G>C
NG_008617.1:g.54664C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3720G>C	ENSP00000455997.2:n.*3720G>C
ENST00000642206.2:c.5218G>C	ENSP00000495146.2:p.Gly1740Arg
ENST00000642365.2:c.5368G>C	ENSP00000495459.2:p.Gly1790Arg
ENST00000644417.2:c.*5884G>C	ENSP00000493912.2:n.*5884G>C
ENST00000646464.2:c.*8120G>C	ENSP00000496610.2:n.*8120G>C
ENST00000219476.9:c.5371G>C MANE Select	ENSP00000219476.3:p.Gly1791Arg
ENST00000350773.9:c.5302G>C	ENSP00000344383.4:p.Gly1768Arg
ENST00000401874.7:c.5170G>C	ENSP00000384468.2:p.Gly1724Arg
ENST00000568454.6:c.5203G>C	ENSP00000454487.1:p.Gly1735Arg
ENST00000569110.2:c.1594G>C
ENST00000569930.2:n.3253G>C
ENST00000642365.1:c.4025G>C
ENST00000642561.1:c.5230G>C	ENSP00000495099.1:p.Gly1744Arg
ENST00000642791.1:n.968G>C
ENST00000642797.1:c.5173G>C	ENSP00000493846.1:p.Gly1725Arg
ENST00000642936.1:c.5239G>C	ENSP00000494514.1:p.Gly1747Arg
ENST00000643088.1:c.5164G>C	ENSP00000494747.1:p.Gly1722Arg
ENST00000643426.1:n.3019G>C
ENST00000643946.1:c.5296G>C	ENSP00000495927.1:p.Gly1766Arg
ENST00000644043.1:c.5242G>C	ENSP00000496262.1:p.Gly1748Arg
ENST00000644329.1:c.5257G>C	ENSP00000496611.1:p.Gly1753Arg
ENST00000644335.1:c.5167G>C	ENSP00000496317.1:p.Gly1723Arg
ENST00000644399.1:c.5292G>C
ENST00000645024.1:n.3455G>C
ENST00000646388.1:c.5365G>C	ENSP00000495921.1:p.Gly1789Arg
ENST00000646634.1:n.4186G>C
ENST00000646674.1:n.2623G>C
ENST00000647042.1:n.2594G>C
ENST00000647180.1:n.2484G>C
ENST00000219476.7:c.5371G>C	ENSP00000219476.3:p.Gly1791Arg
ENST00000350773.8:c.5302G>C	ENSP00000344383.4:p.Gly1768Arg
ENST00000382538.10:c.5026G>C	ENSP00000371978.6:p.Gly1676Arg
ENST00000401874.6:c.5170G>C	ENSP00000384468.2:p.Gly1724Arg
ENST00000439117.6:c.*4538G>C	ENSP00000406980.2:n.*4538G>C
ENST00000439673.6:c.5062G>C	ENSP00000399232.2:p.Gly1688Arg
ENST00000497886.5:n.3094G>C
ENST00000568454.5:c.5203G>C	ENSP00000454487.1:p.Gly1735Arg
ENST00000569110.1:c.1553G>C
ENST00000569930.1:n.2486G>C
NM_000548.3:c.5371G>C , LRG_487t1:c.5371G>C	NP_000539.2:p.Gly1791Arg
NM_001077183.1:c.5170G>C	NP_001070651.1:p.Gly1724Arg
NM_001114382.1:c.5302G>C	NP_001107854.1:p.Gly1768Arg
XM_005255529.3:c.5242G>C	XP_005255586.2:p.Gly1748Arg
XM_005255531.3:c.5173G>C	XP_005255588.2:p.Gly1725Arg
XM_011522636.1:c.5425G>C	XP_011520938.1:p.Gly1809Arg
XM_011522637.1:c.5422G>C	XP_011520939.1:p.Gly1808Arg
XM_011522638.1:c.5314G>C	XP_011520940.1:p.Gly1772Arg
XM_011522639.1:c.5296G>C	XP_011520941.1:p.Gly1766Arg
XM_011522640.1:c.5293G>C	XP_011520942.1:p.Gly1765Arg
XM_011522641.1:c.5062G>C	XP_011520943.1:p.Gly1688Arg
NM_000548.4:c.5371G>C	NP_000539.2:p.Gly1791Arg
NM_001077183.2:c.5170G>C	NP_001070651.1:p.Gly1724Arg
NM_001114382.2:c.5302G>C	NP_001107854.1:p.Gly1768Arg
NM_001318827.1:c.5062G>C	NP_001305756.1:p.Gly1688Arg
NM_001318829.1:c.5026G>C	NP_001305758.1:p.Gly1676Arg
NM_001318831.1:c.4639G>C	NP_001305760.1:p.Gly1547Arg
NM_001318832.1:c.5203G>C	NP_001305761.1:p.Gly1735Arg
NM_001363528.1:c.5173G>C	NP_001350457.1:p.Gly1725Arg
NM_021055.2:c.5242G>C	NP_066399.2:p.Gly1748Arg
XM_005255531.4:c.5173G>C	XP_005255588.2:p.Gly1725Arg
XM_011522636.2:c.5425G>C	XP_011520938.1:p.Gly1809Arg
XM_011522637.2:c.5422G>C	XP_011520939.1:p.Gly1808Arg
XM_011522638.2:c.5587G>C	XP_011520940.2:p.Gly1863Arg
XM_011522639.2:c.5296G>C	XP_011520941.1:p.Gly1766Arg
XM_011522640.2:c.5293G>C	XP_011520942.1:p.Gly1765Arg
XM_017023615.1:c.5368G>C	XP_016879104.1:p.Gly1790Arg
XM_017023616.1:c.5239G>C	XP_016879105.1:p.Gly1747Arg
XM_017023617.1:c.5335G>C	XP_016879106.1:p.Gly1779Arg
XM_017023618.1:c.4081G>C	XP_016879107.1:p.Gly1361Arg
XM_024450413.1:c.5257G>C	XP_024306181.1:p.Gly1753Arg
NM_000548.5:c.5371G>C MANE Select	NP_000539.2:p.Gly1791Arg
NM_001370404.1:c.5239G>C	NP_001357333.1:p.Gly1747Arg
NM_001370405.1:c.5230G>C	NP_001357334.1:p.Gly1744Arg
NM_001077183.3:c.5170G>C	NP_001070651.1:p.Gly1724Arg
NM_001114382.3:c.5302G>C	NP_001107854.1:p.Gly1768Arg
NM_001318827.2:c.5062G>C	NP_001305756.1:p.Gly1688Arg
NM_001318829.2:c.5026G>C	NP_001305758.1:p.Gly1676Arg
NM_001318831.2:c.4639G>C	NP_001305760.1:p.Gly1547Arg
NM_001318832.2:c.5203G>C	NP_001305761.1:p.Gly1735Arg
NM_001363528.2:c.5173G>C	NP_001350457.1:p.Gly1725Arg
NM_021055.3:c.5242G>C	NP_066399.2:p.Gly1748Arg