Canonical Allele Identifier: CA054058

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1000279
• ClinVar RCV Id: RCV001296392
• dbSNP Id: rs758246234
• ExAC: 16:2138124 T / C
• gnomAD v2: 16-2138124-T-C
• gnomAD v3: 16-2088123-T-C
• gnomAD v4: 16-2088123-T-C
• MyVariant Identifiers: chr16:g.2138124T>C (hg19) ; chr16:g.2088123T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088123T>C , CM000678.2:g.2088123T>C	GRCh38
NC_000016.9:g.2138124T>C , CM000678.1:g.2138124T>C	GRCh37
NC_000016.8:g.2078125T>C	NCBI36
NG_005895.1:g.43818T>C , LRG_487:g.43818T>C
NG_008617.1:g.55098A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3493T>C	ENSP00000455997.2:n.*3493T>C
ENST00000642206.2:c.4991T>C	ENSP00000495146.2:p.Met1664Thr
ENST00000642365.2:c.5141T>C	ENSP00000495459.2:p.Met1714Thr
ENST00000644417.2:c.*5657T>C	ENSP00000493912.2:n.*5657T>C
ENST00000646464.2:c.*7893T>C	ENSP00000496610.2:n.*7893T>C
ENST00000219476.9:c.5144T>C MANE Select	ENSP00000219476.3:p.Met1715Thr
ENST00000350773.9:c.5075T>C	ENSP00000344383.4:p.Met1692Thr
ENST00000401874.7:c.4943T>C	ENSP00000384468.2:p.Met1648Thr
ENST00000568454.6:c.4976T>C	ENSP00000454487.1:p.Met1659Thr
ENST00000569110.2:c.1367T>C
ENST00000569930.2:n.3026T>C
ENST00000642365.1:c.3798T>C
ENST00000642561.1:c.5015T>C	ENSP00000495099.1:p.Met1672Thr
ENST00000642791.1:n.741T>C
ENST00000642797.1:c.4946T>C	ENSP00000493846.1:p.Met1649Thr
ENST00000642936.1:c.5012T>C	ENSP00000494514.1:p.Met1671Thr
ENST00000643088.1:c.4937T>C	ENSP00000494747.1:p.Met1646Thr
ENST00000643426.1:n.2792T>C
ENST00000643946.1:c.5069T>C	ENSP00000495927.1:p.Met1690Thr
ENST00000644043.1:c.5015T>C	ENSP00000496262.1:p.Met1672Thr
ENST00000644329.1:c.4943T>C	ENSP00000496611.1:p.Met1648Thr
ENST00000644335.1:c.4940T>C	ENSP00000496317.1:p.Met1647Thr
ENST00000644399.1:c.5065T>C
ENST00000645024.1:n.3228T>C
ENST00000646388.1:c.5138T>C	ENSP00000495921.1:p.Met1713Thr
ENST00000646634.1:n.3959T>C
ENST00000646674.1:n.2396T>C
ENST00000647042.1:n.2367T>C
ENST00000647180.1:n.2257T>C
ENST00000219476.7:c.5144T>C	ENSP00000219476.3:p.Met1715Thr
ENST00000350773.8:c.5075T>C	ENSP00000344383.4:p.Met1692Thr
ENST00000382538.10:c.4799T>C	ENSP00000371978.6:p.Met1600Thr
ENST00000401874.6:c.4943T>C	ENSP00000384468.2:p.Met1648Thr
ENST00000439117.6:c.*4311T>C	ENSP00000406980.2:n.*4311T>C
ENST00000439673.6:c.4835T>C	ENSP00000399232.2:p.Met1612Thr
ENST00000497886.5:n.2867T>C
ENST00000568454.5:c.4976T>C	ENSP00000454487.1:p.Met1659Thr
ENST00000569110.1:c.1326T>C
ENST00000569930.1:n.2259T>C
NM_000548.3:c.5144T>C , LRG_487t1:c.5144T>C	NP_000539.2:p.Met1715Thr
NM_001077183.1:c.4943T>C	NP_001070651.1:p.Met1648Thr
NM_001114382.1:c.5075T>C	NP_001107854.1:p.Met1692Thr
XM_005255529.3:c.5015T>C	XP_005255586.2:p.Met1672Thr
XM_005255531.3:c.4946T>C	XP_005255588.2:p.Met1649Thr
XM_011522636.1:c.5198T>C	XP_011520938.1:p.Met1733Thr
XM_011522637.1:c.5195T>C	XP_011520939.1:p.Met1732Thr
XM_011522638.1:c.5087T>C	XP_011520940.1:p.Met1696Thr
XM_011522639.1:c.5069T>C	XP_011520941.1:p.Met1690Thr
XM_011522640.1:c.5066T>C	XP_011520942.1:p.Met1689Thr
XM_011522641.1:c.4835T>C	XP_011520943.1:p.Met1612Thr
NM_000548.4:c.5144T>C	NP_000539.2:p.Met1715Thr
NM_001077183.2:c.4943T>C	NP_001070651.1:p.Met1648Thr
NM_001114382.2:c.5075T>C	NP_001107854.1:p.Met1692Thr
NM_001318827.1:c.4835T>C	NP_001305756.1:p.Met1612Thr
NM_001318829.1:c.4799T>C	NP_001305758.1:p.Met1600Thr
NM_001318831.1:c.4412T>C	NP_001305760.1:p.Met1471Thr
NM_001318832.1:c.4976T>C	NP_001305761.1:p.Met1659Thr
NM_001363528.1:c.4946T>C	NP_001350457.1:p.Met1649Thr
NM_021055.2:c.5015T>C	NP_066399.2:p.Met1672Thr
XM_005255531.4:c.4946T>C	XP_005255588.2:p.Met1649Thr
XM_011522636.2:c.5198T>C	XP_011520938.1:p.Met1733Thr
XM_011522637.2:c.5195T>C	XP_011520939.1:p.Met1732Thr
XM_011522638.2:c.5360T>C	XP_011520940.2:p.Met1787Thr
XM_011522639.2:c.5069T>C	XP_011520941.1:p.Met1690Thr
XM_011522640.2:c.5066T>C	XP_011520942.1:p.Met1689Thr
XM_017023615.1:c.5141T>C	XP_016879104.1:p.Met1714Thr
XM_017023616.1:c.5012T>C	XP_016879105.1:p.Met1671Thr
XM_017023617.1:c.5108T>C	XP_016879106.1:p.Met1703Thr
XM_017023618.1:c.3854T>C	XP_016879107.1:p.Met1285Thr
XM_024450413.1:c.4943T>C	XP_024306181.1:p.Met1648Thr
NM_000548.5:c.5144T>C MANE Select	NP_000539.2:p.Met1715Thr
NM_001370404.1:c.5012T>C	NP_001357333.1:p.Met1671Thr
NM_001370405.1:c.5015T>C	NP_001357334.1:p.Met1672Thr
NM_001077183.3:c.4943T>C	NP_001070651.1:p.Met1648Thr
NM_001114382.3:c.5075T>C	NP_001107854.1:p.Met1692Thr
NM_001318827.2:c.4835T>C	NP_001305756.1:p.Met1612Thr
NM_001318829.2:c.4799T>C	NP_001305758.1:p.Met1600Thr
NM_001318831.2:c.4412T>C	NP_001305760.1:p.Met1471Thr
NM_001318832.2:c.4976T>C	NP_001305761.1:p.Met1659Thr
NM_001363528.2:c.4946T>C	NP_001350457.1:p.Met1649Thr
NM_021055.3:c.5015T>C	NP_066399.2:p.Met1672Thr