Canonical Allele Identifier: CA493043777

Gene: TSC2

Linked Data

• gnomAD v4: 16-2088565-G-C
• MyVariant Identifiers: chr16:g.2138566G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088565G>C , CM000678.2:g.2088565G>C	GRCh38
NC_000016.9:g.2138566G>C , CM000678.1:g.2138566G>C	GRCh37
NC_000016.8:g.2078567G>C	NCBI36
NG_005895.1:g.44260G>C , LRG_487:g.44260G>C
NG_008617.1:g.54656C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3728G>C	ENSP00000455997.2:n.*3728G>C
ENST00000642206.2:c.5226G>C	ENSP00000495146.2:p.Arg1742=
ENST00000642365.2:c.5376G>C	ENSP00000495459.2:p.Arg1792=
ENST00000644417.2:c.*5892G>C	ENSP00000493912.2:n.*5892G>C
ENST00000646464.2:c.*8128G>C	ENSP00000496610.2:n.*8128G>C
ENST00000219476.9:c.5379G>C MANE Select	ENSP00000219476.3:p.Arg1793=
ENST00000350773.9:c.5310G>C	ENSP00000344383.4:p.Arg1770=
ENST00000401874.7:c.5178G>C	ENSP00000384468.2:p.Arg1726=
ENST00000568454.6:c.5211G>C	ENSP00000454487.1:p.Arg1737=
ENST00000569110.2:c.1602G>C
ENST00000569930.2:n.3261G>C
ENST00000642365.1:c.4033G>C
ENST00000642561.1:c.5238G>C	ENSP00000495099.1:p.Arg1746=
ENST00000642791.1:n.976G>C
ENST00000642797.1:c.5181G>C	ENSP00000493846.1:p.Arg1727=
ENST00000642936.1:c.5247G>C	ENSP00000494514.1:p.Arg1749=
ENST00000643088.1:c.5172G>C	ENSP00000494747.1:p.Arg1724=
ENST00000643426.1:n.3027G>C
ENST00000643946.1:c.5304G>C	ENSP00000495927.1:p.Arg1768=
ENST00000644043.1:c.5250G>C	ENSP00000496262.1:p.Arg1750=
ENST00000644329.1:c.5265G>C	ENSP00000496611.1:p.Arg1755=
ENST00000644335.1:c.5175G>C	ENSP00000496317.1:p.Arg1725=
ENST00000644399.1:c.5300G>C
ENST00000645024.1:n.3463G>C
ENST00000646388.1:c.5373G>C	ENSP00000495921.1:p.Arg1791=
ENST00000646634.1:n.4194G>C
ENST00000646674.1:n.2631G>C
ENST00000647042.1:n.2602G>C
ENST00000647180.1:n.2492G>C
ENST00000219476.7:c.5379G>C	ENSP00000219476.3:p.Arg1793=
ENST00000350773.8:c.5310G>C	ENSP00000344383.4:p.Arg1770=
ENST00000382538.10:c.5034G>C	ENSP00000371978.6:p.Arg1678=
ENST00000401874.6:c.5178G>C	ENSP00000384468.2:p.Arg1726=
ENST00000439117.6:c.*4546G>C	ENSP00000406980.2:n.*4546G>C
ENST00000439673.6:c.5070G>C	ENSP00000399232.2:p.Arg1690=
ENST00000497886.5:n.3102G>C
ENST00000568454.5:c.5211G>C	ENSP00000454487.1:p.Arg1737=
ENST00000569110.1:c.1561G>C
ENST00000569930.1:n.2494G>C
NM_000548.3:c.5379G>C , LRG_487t1:c.5379G>C	NP_000539.2:p.Arg1793=
NM_001077183.1:c.5178G>C	NP_001070651.1:p.Arg1726=
NM_001114382.1:c.5310G>C	NP_001107854.1:p.Arg1770=
XM_005255529.3:c.5250G>C	XP_005255586.2:p.Arg1750=
XM_005255531.3:c.5181G>C	XP_005255588.2:p.Arg1727=
XM_011522636.1:c.5433G>C	XP_011520938.1:p.Arg1811=
XM_011522637.1:c.5430G>C	XP_011520939.1:p.Arg1810=
XM_011522638.1:c.5322G>C	XP_011520940.1:p.Arg1774=
XM_011522639.1:c.5304G>C	XP_011520941.1:p.Arg1768=
XM_011522640.1:c.5301G>C	XP_011520942.1:p.Arg1767=
XM_011522641.1:c.5070G>C	XP_011520943.1:p.Arg1690=
NM_000548.4:c.5379G>C	NP_000539.2:p.Arg1793=
NM_001077183.2:c.5178G>C	NP_001070651.1:p.Arg1726=
NM_001114382.2:c.5310G>C	NP_001107854.1:p.Arg1770=
NM_001318827.1:c.5070G>C	NP_001305756.1:p.Arg1690=
NM_001318829.1:c.5034G>C	NP_001305758.1:p.Arg1678=
NM_001318831.1:c.4647G>C	NP_001305760.1:p.Arg1549=
NM_001318832.1:c.5211G>C	NP_001305761.1:p.Arg1737=
NM_001363528.1:c.5181G>C	NP_001350457.1:p.Arg1727=
NM_021055.2:c.5250G>C	NP_066399.2:p.Arg1750=
XM_005255531.4:c.5181G>C	XP_005255588.2:p.Arg1727=
XM_011522636.2:c.5433G>C	XP_011520938.1:p.Arg1811=
XM_011522637.2:c.5430G>C	XP_011520939.1:p.Arg1810=
XM_011522638.2:c.5595G>C	XP_011520940.2:p.Arg1865=
XM_011522639.2:c.5304G>C	XP_011520941.1:p.Arg1768=
XM_011522640.2:c.5301G>C	XP_011520942.1:p.Arg1767=
XM_017023615.1:c.5376G>C	XP_016879104.1:p.Arg1792=
XM_017023616.1:c.5247G>C	XP_016879105.1:p.Arg1749=
XM_017023617.1:c.5343G>C	XP_016879106.1:p.Arg1781=
XM_017023618.1:c.4089G>C	XP_016879107.1:p.Arg1363=
XM_024450413.1:c.5265G>C	XP_024306181.1:p.Arg1755=
NM_000548.5:c.5379G>C MANE Select	NP_000539.2:p.Arg1793=
NM_001370404.1:c.5247G>C	NP_001357333.1:p.Arg1749=
NM_001370405.1:c.5238G>C	NP_001357334.1:p.Arg1746=
NM_001077183.3:c.5178G>C	NP_001070651.1:p.Arg1726=
NM_001114382.3:c.5310G>C	NP_001107854.1:p.Arg1770=
NM_001318827.2:c.5070G>C	NP_001305756.1:p.Arg1690=
NM_001318829.2:c.5034G>C	NP_001305758.1:p.Arg1678=
NM_001318831.2:c.4647G>C	NP_001305760.1:p.Arg1549=
NM_001318832.2:c.5211G>C	NP_001305761.1:p.Arg1737=
NM_001363528.2:c.5181G>C	NP_001350457.1:p.Arg1727=
NM_021055.3:c.5250G>C	NP_066399.2:p.Arg1750=