Canonical Allele Identifier: CA394314459

Gene: TSC2

Linked Data

• ClinVar Variation Id: 825558
• ClinVar RCV Id: RCV001023747 ; RCV001061035 ; RCV001772198
• dbSNP Id: rs137854219
• gnomAD v2: 16-2138286-G-C
• gnomAD v4: 16-2088285-G-C
• MyVariant Identifiers: chr16:g.2138286G>C (hg19) ; chr16:g.2088285G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088285G>C , CM000678.2:g.2088285G>C	GRCh38
NC_000016.9:g.2138286G>C , CM000678.1:g.2138286G>C	GRCh37
NC_000016.8:g.2078287G>C	NCBI36
NG_005895.1:g.43980G>C , LRG_487:g.43980G>C
NG_008617.1:g.54936C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3568G>C	ENSP00000455997.2:n.*3568G>C
ENST00000642206.2:c.5066G>C	ENSP00000495146.2:p.Trp1689Ser
ENST00000642365.2:c.5216G>C	ENSP00000495459.2:p.Trp1739Ser
ENST00000644417.2:c.*5732G>C	ENSP00000493912.2:n.*5732G>C
ENST00000646464.2:c.*7968G>C	ENSP00000496610.2:n.*7968G>C
ENST00000219476.9:c.5219G>C MANE Select	ENSP00000219476.3:p.Trp1740Ser
ENST00000350773.9:c.5150G>C	ENSP00000344383.4:p.Trp1717Ser
ENST00000401874.7:c.5018G>C	ENSP00000384468.2:p.Trp1673Ser
ENST00000568454.6:c.5051G>C	ENSP00000454487.1:p.Trp1684Ser
ENST00000569110.2:c.1442G>C
ENST00000569930.2:n.3101G>C
ENST00000642365.1:c.3873G>C
ENST00000642561.1:c.5078G>C	ENSP00000495099.1:p.Trp1693Ser
ENST00000642791.1:n.816G>C
ENST00000642797.1:c.5021G>C	ENSP00000493846.1:p.Trp1674Ser
ENST00000642936.1:c.5087G>C	ENSP00000494514.1:p.Trp1696Ser
ENST00000643088.1:c.5012G>C	ENSP00000494747.1:p.Trp1671Ser
ENST00000643426.1:n.2867G>C
ENST00000643946.1:c.5144G>C	ENSP00000495927.1:p.Trp1715Ser
ENST00000644043.1:c.5090G>C	ENSP00000496262.1:p.Trp1697Ser
ENST00000644329.1:c.5105G>C	ENSP00000496611.1:p.Trp1702Ser
ENST00000644335.1:c.5015G>C	ENSP00000496317.1:p.Trp1672Ser
ENST00000644399.1:c.5140G>C
ENST00000645024.1:n.3303G>C
ENST00000646388.1:c.5213G>C	ENSP00000495921.1:p.Trp1738Ser
ENST00000646634.1:n.4034G>C
ENST00000646674.1:n.2471G>C
ENST00000647042.1:n.2442G>C
ENST00000647180.1:n.2332G>C
ENST00000219476.7:c.5219G>C	ENSP00000219476.3:p.Trp1740Ser
ENST00000350773.8:c.5150G>C	ENSP00000344383.4:p.Trp1717Ser
ENST00000382538.10:c.4874G>C	ENSP00000371978.6:p.Trp1625Ser
ENST00000401874.6:c.5018G>C	ENSP00000384468.2:p.Trp1673Ser
ENST00000439117.6:c.*4386G>C	ENSP00000406980.2:n.*4386G>C
ENST00000439673.6:c.4910G>C	ENSP00000399232.2:p.Trp1637Ser
ENST00000497886.5:n.2942G>C
ENST00000568454.5:c.5051G>C	ENSP00000454487.1:p.Trp1684Ser
ENST00000569110.1:c.1401G>C
ENST00000569930.1:n.2334G>C
NM_000548.3:c.5219G>C , LRG_487t1:c.5219G>C	NP_000539.2:p.Trp1740Ser
NM_001077183.1:c.5018G>C	NP_001070651.1:p.Trp1673Ser
NM_001114382.1:c.5150G>C	NP_001107854.1:p.Trp1717Ser
XM_005255529.3:c.5090G>C	XP_005255586.2:p.Trp1697Ser
XM_005255531.3:c.5021G>C	XP_005255588.2:p.Trp1674Ser
XM_011522636.1:c.5273G>C	XP_011520938.1:p.Trp1758Ser
XM_011522637.1:c.5270G>C	XP_011520939.1:p.Trp1757Ser
XM_011522638.1:c.5162G>C	XP_011520940.1:p.Trp1721Ser
XM_011522639.1:c.5144G>C	XP_011520941.1:p.Trp1715Ser
XM_011522640.1:c.5141G>C	XP_011520942.1:p.Trp1714Ser
XM_011522641.1:c.4910G>C	XP_011520943.1:p.Trp1637Ser
NM_000548.4:c.5219G>C	NP_000539.2:p.Trp1740Ser
NM_001077183.2:c.5018G>C	NP_001070651.1:p.Trp1673Ser
NM_001114382.2:c.5150G>C	NP_001107854.1:p.Trp1717Ser
NM_001318827.1:c.4910G>C	NP_001305756.1:p.Trp1637Ser
NM_001318829.1:c.4874G>C	NP_001305758.1:p.Trp1625Ser
NM_001318831.1:c.4487G>C	NP_001305760.1:p.Trp1496Ser
NM_001318832.1:c.5051G>C	NP_001305761.1:p.Trp1684Ser
NM_001363528.1:c.5021G>C	NP_001350457.1:p.Trp1674Ser
NM_021055.2:c.5090G>C	NP_066399.2:p.Trp1697Ser
XM_005255531.4:c.5021G>C	XP_005255588.2:p.Trp1674Ser
XM_011522636.2:c.5273G>C	XP_011520938.1:p.Trp1758Ser
XM_011522637.2:c.5270G>C	XP_011520939.1:p.Trp1757Ser
XM_011522638.2:c.5435G>C	XP_011520940.2:p.Trp1812Ser
XM_011522639.2:c.5144G>C	XP_011520941.1:p.Trp1715Ser
XM_011522640.2:c.5141G>C	XP_011520942.1:p.Trp1714Ser
XM_017023615.1:c.5216G>C	XP_016879104.1:p.Trp1739Ser
XM_017023616.1:c.5087G>C	XP_016879105.1:p.Trp1696Ser
XM_017023617.1:c.5183G>C	XP_016879106.1:p.Trp1728Ser
XM_017023618.1:c.3929G>C	XP_016879107.1:p.Trp1310Ser
XM_024450413.1:c.5105G>C	XP_024306181.1:p.Trp1702Ser
NM_000548.5:c.5219G>C MANE Select	NP_000539.2:p.Trp1740Ser
NM_001370404.1:c.5087G>C	NP_001357333.1:p.Trp1696Ser
NM_001370405.1:c.5078G>C	NP_001357334.1:p.Trp1693Ser
NM_001077183.3:c.5018G>C	NP_001070651.1:p.Trp1673Ser
NM_001114382.3:c.5150G>C	NP_001107854.1:p.Trp1717Ser
NM_001318827.2:c.4910G>C	NP_001305756.1:p.Trp1637Ser
NM_001318829.2:c.4874G>C	NP_001305758.1:p.Trp1625Ser
NM_001318831.2:c.4487G>C	NP_001305760.1:p.Trp1496Ser
NM_001318832.2:c.5051G>C	NP_001305761.1:p.Trp1684Ser
NM_001363528.2:c.5021G>C	NP_001350457.1:p.Trp1674Ser
NM_021055.3:c.5090G>C	NP_066399.2:p.Trp1697Ser