Canonical Allele Identifier: CA394304325

Gene: TSC2

Linked Data

• ClinVar Variation Id: 639390
• ClinVar RCV Id: RCV000792166
• dbSNP Id: rs1596426462
• gnomAD v4: 16-2085234-A-G
• MyVariant Identifiers: chr16:g.2135235A>G (hg19) ; chr16:g.2085234A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085234A>G , CM000678.2:g.2085234A>G	GRCh38
NC_000016.9:g.2135235A>G , CM000678.1:g.2135235A>G	GRCh37
NC_000016.8:g.2075236A>G	NCBI36
NG_005895.1:g.40929A>G , LRG_487:g.40929A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2923A>G	ENSP00000455997.2:n.*2923A>G
ENST00000642206.2:c.4421A>G	ENSP00000495146.2:p.Gln1474Arg
ENST00000642365.2:c.4571A>G	ENSP00000495459.2:p.Gln1524Arg
ENST00000644417.2:c.*4954A>G	ENSP00000493912.2:n.*4954A>G
ENST00000646464.2:c.*7323A>G	ENSP00000496610.2:n.*7323A>G
ENST00000219476.9:c.4574A>G MANE Select	ENSP00000219476.3:p.Gln1525Arg
ENST00000350773.9:c.4505A>G	ENSP00000344383.4:p.Gln1502Arg
ENST00000401874.7:c.4373A>G	ENSP00000384468.2:p.Gln1458Arg
ENST00000568454.6:c.4406A>G	ENSP00000454487.1:p.Gln1469Arg
ENST00000569110.2:c.797A>G
ENST00000569930.2:n.2456A>G
ENST00000642365.1:c.3228A>G
ENST00000642561.1:c.4445A>G	ENSP00000495099.1:p.Gln1482Arg
ENST00000642728.1:n.756A>G
ENST00000642791.1:n.171A>G
ENST00000642797.1:c.4376A>G	ENSP00000493846.1:p.Gln1459Arg
ENST00000642936.1:c.4442A>G	ENSP00000494514.1:p.Gln1481Arg
ENST00000643088.1:c.4369-2A>G	ENSP00000494747.1:n.4369-2A>G
ENST00000643177.1:n.588A>G
ENST00000643426.1:n.2222A>G
ENST00000643946.1:c.4501-2A>G	ENSP00000495927.1:n.4501-2A>G
ENST00000644043.1:c.4445A>G	ENSP00000496262.1:p.Gln1482Arg
ENST00000644278.1:n.56A>G
ENST00000644329.1:c.4373A>G	ENSP00000496611.1:p.Gln1458Arg
ENST00000644335.1:c.4372-2A>G	ENSP00000496317.1:n.4372-2A>G
ENST00000644399.1:c.4495A>G
ENST00000645024.1:n.2658A>G
ENST00000646388.1:c.4570-2A>G	ENSP00000495921.1:n.4570-2A>G
ENST00000646634.1:n.3389A>G
ENST00000646674.1:n.1826A>G
ENST00000647042.1:n.1797A>G
ENST00000647180.1:n.1687A>G
ENST00000219476.7:c.4574A>G	ENSP00000219476.3:p.Gln1525Arg
ENST00000350773.8:c.4505A>G	ENSP00000344383.4:p.Gln1502Arg
ENST00000382538.10:c.4229A>G	ENSP00000371978.6:p.Gln1410Arg
ENST00000401874.6:c.4373A>G	ENSP00000384468.2:p.Gln1458Arg
ENST00000439117.6:c.*3741A>G	ENSP00000406980.2:n.*3741A>G
ENST00000439673.6:c.4265A>G	ENSP00000399232.2:p.Gln1422Arg
ENST00000497886.5:n.2332A>G
ENST00000568454.5:c.4406A>G	ENSP00000454487.1:p.Gln1469Arg
ENST00000569110.1:c.756A>G
ENST00000569930.1:n.1689A>G
NM_000548.3:c.4574A>G , LRG_487t1:c.4574A>G	NP_000539.2:p.Gln1525Arg
NM_001077183.1:c.4373A>G	NP_001070651.1:p.Gln1458Arg
NM_001114382.1:c.4505A>G	NP_001107854.1:p.Gln1502Arg
XM_005255529.3:c.4445A>G	XP_005255586.2:p.Gln1482Arg
XM_005255531.3:c.4376A>G	XP_005255588.2:p.Gln1459Arg
XM_011522636.1:c.4628A>G	XP_011520938.1:p.Gln1543Arg
XM_011522637.1:c.4625A>G	XP_011520939.1:p.Gln1542Arg
XM_011522638.1:c.4517A>G	XP_011520940.1:p.Gln1506Arg
XM_011522639.1:c.4499A>G	XP_011520941.1:p.Gln1500Arg
XM_011522640.1:c.4496A>G	XP_011520942.1:p.Gln1499Arg
XM_011522641.1:c.4265A>G	XP_011520943.1:p.Gln1422Arg
NM_000548.4:c.4574A>G	NP_000539.2:p.Gln1525Arg
NM_001077183.2:c.4373A>G	NP_001070651.1:p.Gln1458Arg
NM_001114382.2:c.4505A>G	NP_001107854.1:p.Gln1502Arg
NM_001318827.1:c.4265A>G	NP_001305756.1:p.Gln1422Arg
NM_001318829.1:c.4229A>G	NP_001305758.1:p.Gln1410Arg
NM_001318831.1:c.3842A>G	NP_001305760.1:p.Gln1281Arg
NM_001318832.1:c.4406A>G	NP_001305761.1:p.Gln1469Arg
NM_001363528.1:c.4376A>G	NP_001350457.1:p.Gln1459Arg
NM_021055.2:c.4445A>G	NP_066399.2:p.Gln1482Arg
XM_005255531.4:c.4376A>G	XP_005255588.2:p.Gln1459Arg
XM_011522636.2:c.4628A>G	XP_011520938.1:p.Gln1543Arg
XM_011522637.2:c.4625A>G	XP_011520939.1:p.Gln1542Arg
XM_011522638.2:c.4790A>G	XP_011520940.2:p.Gln1597Arg
XM_011522639.2:c.4499A>G	XP_011520941.1:p.Gln1500Arg
XM_011522640.2:c.4496A>G	XP_011520942.1:p.Gln1499Arg
XM_017023615.1:c.4571A>G	XP_016879104.1:p.Gln1524Arg
XM_017023616.1:c.4442A>G	XP_016879105.1:p.Gln1481Arg
XM_017023617.1:c.4538A>G	XP_016879106.1:p.Gln1513Arg
XM_017023618.1:c.3284A>G	XP_016879107.1:p.Gln1095Arg
XM_024450413.1:c.4373A>G	XP_024306181.1:p.Gln1458Arg
NM_000548.5:c.4574A>G MANE Select	NP_000539.2:p.Gln1525Arg
NM_001370404.1:c.4442A>G	NP_001357333.1:p.Gln1481Arg
NM_001370405.1:c.4445A>G	NP_001357334.1:p.Gln1482Arg
NM_001077183.3:c.4373A>G	NP_001070651.1:p.Gln1458Arg
NM_001114382.3:c.4505A>G	NP_001107854.1:p.Gln1502Arg
NM_001318827.2:c.4265A>G	NP_001305756.1:p.Gln1422Arg
NM_001318829.2:c.4229A>G	NP_001305758.1:p.Gln1410Arg
NM_001318831.2:c.3842A>G	NP_001305760.1:p.Gln1281Arg
NM_001318832.2:c.4406A>G	NP_001305761.1:p.Gln1469Arg
NM_001363528.2:c.4376A>G	NP_001350457.1:p.Gln1459Arg
NM_021055.3:c.4445A>G	NP_066399.2:p.Gln1482Arg