Canonical Allele Identifier: CA022058

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49949
• ClinVar RCV Id: RCV000043216 ; RCV001366989 ; RCV002247426
• dbSNP Id: rs45517408
• MyVariant Identifiers: chr16:g.2138234T>C (hg19) ; chr16:g.2088233T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088233T>C , CM000678.2:g.2088233T>C	GRCh38
NC_000016.9:g.2138234T>C , CM000678.1:g.2138234T>C	GRCh37
NC_000016.8:g.2078235T>C	NCBI36
NG_005895.1:g.43928T>C , LRG_487:g.43928T>C
NG_008617.1:g.54988A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3516T>C	ENSP00000455997.2:n.*3516T>C
ENST00000642206.2:c.5014T>C	ENSP00000495146.2:p.Ser1672Pro
ENST00000642365.2:c.5164T>C	ENSP00000495459.2:p.Ser1722Pro
ENST00000644417.2:c.*5680T>C	ENSP00000493912.2:n.*5680T>C
ENST00000646464.2:c.*7916T>C	ENSP00000496610.2:n.*7916T>C
ENST00000219476.9:c.5167T>C MANE Select	ENSP00000219476.3:p.Ser1723Pro
ENST00000350773.9:c.5098T>C	ENSP00000344383.4:p.Ser1700Pro
ENST00000401874.7:c.4966T>C	ENSP00000384468.2:p.Ser1656Pro
ENST00000568454.6:c.4999T>C	ENSP00000454487.1:p.Ser1667Pro
ENST00000569110.2:c.1390T>C
ENST00000569930.2:n.3049T>C
ENST00000642365.1:c.3821T>C
ENST00000642561.1:c.5032-6T>C	ENSP00000495099.1:n.5032-6T>C
ENST00000642791.1:n.764T>C
ENST00000642797.1:c.4969T>C	ENSP00000493846.1:p.Ser1657Pro
ENST00000642936.1:c.5035T>C	ENSP00000494514.1:p.Ser1679Pro
ENST00000643088.1:c.4960T>C	ENSP00000494747.1:p.Ser1654Pro
ENST00000643426.1:n.2815T>C
ENST00000643946.1:c.5092T>C	ENSP00000495927.1:p.Ser1698Pro
ENST00000644043.1:c.5038T>C	ENSP00000496262.1:p.Ser1680Pro
ENST00000644329.1:c.5053T>C	ENSP00000496611.1:p.Ser1685Pro
ENST00000644335.1:c.4963T>C	ENSP00000496317.1:p.Ser1655Pro
ENST00000644399.1:c.5088T>C
ENST00000645024.1:n.3251T>C
ENST00000646388.1:c.5161T>C	ENSP00000495921.1:p.Ser1721Pro
ENST00000646634.1:n.3982T>C
ENST00000646674.1:n.2419T>C
ENST00000647042.1:n.2390T>C
ENST00000647180.1:n.2280T>C
ENST00000219476.7:c.5167T>C	ENSP00000219476.3:p.Ser1723Pro
ENST00000350773.8:c.5098T>C	ENSP00000344383.4:p.Ser1700Pro
ENST00000382538.10:c.4822T>C	ENSP00000371978.6:p.Ser1608Pro
ENST00000401874.6:c.4966T>C	ENSP00000384468.2:p.Ser1656Pro
ENST00000439117.6:c.*4334T>C	ENSP00000406980.2:n.*4334T>C
ENST00000439673.6:c.4858T>C	ENSP00000399232.2:p.Ser1620Pro
ENST00000497886.5:n.2890T>C
ENST00000568454.5:c.4999T>C	ENSP00000454487.1:p.Ser1667Pro
ENST00000569110.1:c.1349T>C
ENST00000569930.1:n.2282T>C
NM_000548.3:c.5167T>C , LRG_487t1:c.5167T>C	NP_000539.2:p.Ser1723Pro
NM_001077183.1:c.4966T>C	NP_001070651.1:p.Ser1656Pro
NM_001114382.1:c.5098T>C	NP_001107854.1:p.Ser1700Pro
XM_005255529.3:c.5038T>C	XP_005255586.2:p.Ser1680Pro
XM_005255531.3:c.4969T>C	XP_005255588.2:p.Ser1657Pro
XM_011522636.1:c.5221T>C	XP_011520938.1:p.Ser1741Pro
XM_011522637.1:c.5218T>C	XP_011520939.1:p.Ser1740Pro
XM_011522638.1:c.5110T>C	XP_011520940.1:p.Ser1704Pro
XM_011522639.1:c.5092T>C	XP_011520941.1:p.Ser1698Pro
XM_011522640.1:c.5089T>C	XP_011520942.1:p.Ser1697Pro
XM_011522641.1:c.4858T>C	XP_011520943.1:p.Ser1620Pro
NM_000548.4:c.5167T>C	NP_000539.2:p.Ser1723Pro
NM_001077183.2:c.4966T>C	NP_001070651.1:p.Ser1656Pro
NM_001114382.2:c.5098T>C	NP_001107854.1:p.Ser1700Pro
NM_001318827.1:c.4858T>C	NP_001305756.1:p.Ser1620Pro
NM_001318829.1:c.4822T>C	NP_001305758.1:p.Ser1608Pro
NM_001318831.1:c.4435T>C	NP_001305760.1:p.Ser1479Pro
NM_001318832.1:c.4999T>C	NP_001305761.1:p.Ser1667Pro
NM_001363528.1:c.4969T>C	NP_001350457.1:p.Ser1657Pro
NM_021055.2:c.5038T>C	NP_066399.2:p.Ser1680Pro
XM_005255531.4:c.4969T>C	XP_005255588.2:p.Ser1657Pro
XM_011522636.2:c.5221T>C	XP_011520938.1:p.Ser1741Pro
XM_011522637.2:c.5218T>C	XP_011520939.1:p.Ser1740Pro
XM_011522638.2:c.5383T>C	XP_011520940.2:p.Ser1795Pro
XM_011522639.2:c.5092T>C	XP_011520941.1:p.Ser1698Pro
XM_011522640.2:c.5089T>C	XP_011520942.1:p.Ser1697Pro
XM_017023615.1:c.5164T>C	XP_016879104.1:p.Ser1722Pro
XM_017023616.1:c.5035T>C	XP_016879105.1:p.Ser1679Pro
XM_017023617.1:c.5131T>C	XP_016879106.1:p.Ser1711Pro
XM_017023618.1:c.3877T>C	XP_016879107.1:p.Ser1293Pro
XM_024450413.1:c.5053T>C	XP_024306181.1:p.Ser1685Pro
NM_000548.5:c.5167T>C MANE Select	NP_000539.2:p.Ser1723Pro
NM_001370404.1:c.5035T>C	NP_001357333.1:p.Ser1679Pro
NM_001370405.1:c.5032-6T>C	NP_001357334.1:n.5032-6T>C
NM_001077183.3:c.4966T>C	NP_001070651.1:p.Ser1656Pro
NM_001114382.3:c.5098T>C	NP_001107854.1:p.Ser1700Pro
NM_001318827.2:c.4858T>C	NP_001305756.1:p.Ser1620Pro
NM_001318829.2:c.4822T>C	NP_001305758.1:p.Ser1608Pro
NM_001318831.2:c.4435T>C	NP_001305760.1:p.Ser1479Pro
NM_001318832.2:c.4999T>C	NP_001305761.1:p.Ser1667Pro
NM_001363528.2:c.4969T>C	NP_001350457.1:p.Ser1657Pro
NM_021055.3:c.5038T>C	NP_066399.2:p.Ser1680Pro