Canonical Allele Identifier: CA022052

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65360
• ClinVar RCV Id: RCV000055584
• dbSNP Id: rs397515270
• MyVariant Identifiers: chr16:g.2138231G>C (hg19) ; chr16:g.2088230G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088230G>C , CM000678.2:g.2088230G>C	GRCh38
NC_000016.9:g.2138231G>C , CM000678.1:g.2138231G>C	GRCh37
NC_000016.8:g.2078232G>C	NCBI36
NG_005895.1:g.43925G>C , LRG_487:g.43925G>C
NG_008617.1:g.54991C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3513G>C	ENSP00000455997.2:n.*3513G>C
ENST00000642206.2:c.5011G>C	ENSP00000495146.2:p.Ala1671Pro
ENST00000642365.2:c.5161G>C	ENSP00000495459.2:p.Ala1721Pro
ENST00000644417.2:c.*5677G>C	ENSP00000493912.2:n.*5677G>C
ENST00000646464.2:c.*7913G>C	ENSP00000496610.2:n.*7913G>C
ENST00000219476.9:c.5164G>C MANE Select	ENSP00000219476.3:p.Ala1722Pro
ENST00000350773.9:c.5095G>C	ENSP00000344383.4:p.Ala1699Pro
ENST00000401874.7:c.4963G>C	ENSP00000384468.2:p.Ala1655Pro
ENST00000568454.6:c.4996G>C	ENSP00000454487.1:p.Ala1666Pro
ENST00000569110.2:c.1387G>C
ENST00000569930.2:n.3046G>C
ENST00000642365.1:c.3818G>C
ENST00000642561.1:c.5032-9G>C	ENSP00000495099.1:n.5032-9G>C
ENST00000642791.1:n.761G>C
ENST00000642797.1:c.4966G>C	ENSP00000493846.1:p.Ala1656Pro
ENST00000642936.1:c.5032G>C	ENSP00000494514.1:p.Ala1678Pro
ENST00000643088.1:c.4957G>C	ENSP00000494747.1:p.Ala1653Pro
ENST00000643426.1:n.2812G>C
ENST00000643946.1:c.5089G>C	ENSP00000495927.1:p.Ala1697Pro
ENST00000644043.1:c.5035G>C	ENSP00000496262.1:p.Ala1679Pro
ENST00000644329.1:c.5050G>C	ENSP00000496611.1:p.Ala1684Pro
ENST00000644335.1:c.4960G>C	ENSP00000496317.1:p.Ala1654Pro
ENST00000644399.1:c.5085G>C
ENST00000645024.1:n.3248G>C
ENST00000646388.1:c.5158G>C	ENSP00000495921.1:p.Ala1720Pro
ENST00000646634.1:n.3979G>C
ENST00000646674.1:n.2416G>C
ENST00000647042.1:n.2387G>C
ENST00000647180.1:n.2277G>C
ENST00000219476.7:c.5164G>C	ENSP00000219476.3:p.Ala1722Pro
ENST00000350773.8:c.5095G>C	ENSP00000344383.4:p.Ala1699Pro
ENST00000382538.10:c.4819G>C	ENSP00000371978.6:p.Ala1607Pro
ENST00000401874.6:c.4963G>C	ENSP00000384468.2:p.Ala1655Pro
ENST00000439117.6:c.*4331G>C	ENSP00000406980.2:n.*4331G>C
ENST00000439673.6:c.4855G>C	ENSP00000399232.2:p.Ala1619Pro
ENST00000497886.5:n.2887G>C
ENST00000568454.5:c.4996G>C	ENSP00000454487.1:p.Ala1666Pro
ENST00000569110.1:c.1346G>C
ENST00000569930.1:n.2279G>C
NM_000548.3:c.5164G>C , LRG_487t1:c.5164G>C	NP_000539.2:p.Ala1722Pro
NM_001077183.1:c.4963G>C	NP_001070651.1:p.Ala1655Pro
NM_001114382.1:c.5095G>C	NP_001107854.1:p.Ala1699Pro
XM_005255529.3:c.5035G>C	XP_005255586.2:p.Ala1679Pro
XM_005255531.3:c.4966G>C	XP_005255588.2:p.Ala1656Pro
XM_011522636.1:c.5218G>C	XP_011520938.1:p.Ala1740Pro
XM_011522637.1:c.5215G>C	XP_011520939.1:p.Ala1739Pro
XM_011522638.1:c.5107G>C	XP_011520940.1:p.Ala1703Pro
XM_011522639.1:c.5089G>C	XP_011520941.1:p.Ala1697Pro
XM_011522640.1:c.5086G>C	XP_011520942.1:p.Ala1696Pro
XM_011522641.1:c.4855G>C	XP_011520943.1:p.Ala1619Pro
NM_000548.4:c.5164G>C	NP_000539.2:p.Ala1722Pro
NM_001077183.2:c.4963G>C	NP_001070651.1:p.Ala1655Pro
NM_001114382.2:c.5095G>C	NP_001107854.1:p.Ala1699Pro
NM_001318827.1:c.4855G>C	NP_001305756.1:p.Ala1619Pro
NM_001318829.1:c.4819G>C	NP_001305758.1:p.Ala1607Pro
NM_001318831.1:c.4432G>C	NP_001305760.1:p.Ala1478Pro
NM_001318832.1:c.4996G>C	NP_001305761.1:p.Ala1666Pro
NM_001363528.1:c.4966G>C	NP_001350457.1:p.Ala1656Pro
NM_021055.2:c.5035G>C	NP_066399.2:p.Ala1679Pro
XM_005255531.4:c.4966G>C	XP_005255588.2:p.Ala1656Pro
XM_011522636.2:c.5218G>C	XP_011520938.1:p.Ala1740Pro
XM_011522637.2:c.5215G>C	XP_011520939.1:p.Ala1739Pro
XM_011522638.2:c.5380G>C	XP_011520940.2:p.Ala1794Pro
XM_011522639.2:c.5089G>C	XP_011520941.1:p.Ala1697Pro
XM_011522640.2:c.5086G>C	XP_011520942.1:p.Ala1696Pro
XM_017023615.1:c.5161G>C	XP_016879104.1:p.Ala1721Pro
XM_017023616.1:c.5032G>C	XP_016879105.1:p.Ala1678Pro
XM_017023617.1:c.5128G>C	XP_016879106.1:p.Ala1710Pro
XM_017023618.1:c.3874G>C	XP_016879107.1:p.Ala1292Pro
XM_024450413.1:c.5050G>C	XP_024306181.1:p.Ala1684Pro
NM_000548.5:c.5164G>C MANE Select	NP_000539.2:p.Ala1722Pro
NM_001370404.1:c.5032G>C	NP_001357333.1:p.Ala1678Pro
NM_001370405.1:c.5032-9G>C	NP_001357334.1:n.5032-9G>C
NM_001077183.3:c.4963G>C	NP_001070651.1:p.Ala1655Pro
NM_001114382.3:c.5095G>C	NP_001107854.1:p.Ala1699Pro
NM_001318827.2:c.4855G>C	NP_001305756.1:p.Ala1619Pro
NM_001318829.2:c.4819G>C	NP_001305758.1:p.Ala1607Pro
NM_001318831.2:c.4432G>C	NP_001305760.1:p.Ala1478Pro
NM_001318832.2:c.4996G>C	NP_001305761.1:p.Ala1666Pro
NM_001363528.2:c.4966G>C	NP_001350457.1:p.Ala1656Pro
NM_021055.3:c.5035G>C	NP_066399.2:p.Ala1679Pro