Canonical Allele Identifier: CA022397

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65127
• ClinVar RCV Id: RCV000055340 ; RCV000476423 ; RCV000574389 ; RCV001703960 ; RCV002477181
• dbSNP Id: rs370820622
• ExAC: 16:2138518 T / C
• gnomAD v2: 16-2138518-T-C
• gnomAD v3: 16-2088517-T-C
• gnomAD v4: 16-2088517-T-C
• MyVariant Identifiers: chr16:g.2138518T>C (hg19) ; chr16:g.2088517T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088517T>C , CM000678.2:g.2088517T>C	GRCh38
NC_000016.9:g.2138518T>C , CM000678.1:g.2138518T>C	GRCh37
NC_000016.8:g.2078519T>C	NCBI36
NG_005895.1:g.44212T>C , LRG_487:g.44212T>C
NG_008617.1:g.54704A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3680T>C	ENSP00000455997.2:n.*3680T>C
ENST00000642206.2:c.5178T>C	ENSP00000495146.2:p.Pro1726=
ENST00000642365.2:c.5328T>C	ENSP00000495459.2:p.Pro1776=
ENST00000644417.2:c.*5844T>C	ENSP00000493912.2:n.*5844T>C
ENST00000646464.2:c.*8080T>C	ENSP00000496610.2:n.*8080T>C
ENST00000219476.9:c.5331T>C MANE Select	ENSP00000219476.3:p.Pro1777=
ENST00000350773.9:c.5262T>C	ENSP00000344383.4:p.Pro1754=
ENST00000401874.7:c.5130T>C	ENSP00000384468.2:p.Pro1710=
ENST00000568454.6:c.5163T>C	ENSP00000454487.1:p.Pro1721=
ENST00000569110.2:c.1554T>C
ENST00000569930.2:n.3213T>C
ENST00000642365.1:c.3985T>C
ENST00000642561.1:c.5190T>C	ENSP00000495099.1:p.Pro1730=
ENST00000642791.1:n.928T>C
ENST00000642797.1:c.5133T>C	ENSP00000493846.1:p.Pro1711=
ENST00000642936.1:c.5199T>C	ENSP00000494514.1:p.Pro1733=
ENST00000643088.1:c.5124T>C	ENSP00000494747.1:p.Pro1708=
ENST00000643426.1:n.2979T>C
ENST00000643946.1:c.5256T>C	ENSP00000495927.1:p.Pro1752=
ENST00000644043.1:c.5202T>C	ENSP00000496262.1:p.Pro1734=
ENST00000644329.1:c.5217T>C	ENSP00000496611.1:p.Pro1739=
ENST00000644335.1:c.5127T>C	ENSP00000496317.1:p.Pro1709=
ENST00000644399.1:c.5252T>C
ENST00000645024.1:n.3415T>C
ENST00000646388.1:c.5325T>C	ENSP00000495921.1:p.Pro1775=
ENST00000646634.1:n.4146T>C
ENST00000646674.1:n.2583T>C
ENST00000647042.1:n.2554T>C
ENST00000647180.1:n.2444T>C
ENST00000219476.7:c.5331T>C	ENSP00000219476.3:p.Pro1777=
ENST00000350773.8:c.5262T>C	ENSP00000344383.4:p.Pro1754=
ENST00000382538.10:c.4986T>C	ENSP00000371978.6:p.Pro1662=
ENST00000401874.6:c.5130T>C	ENSP00000384468.2:p.Pro1710=
ENST00000439117.6:c.*4498T>C	ENSP00000406980.2:n.*4498T>C
ENST00000439673.6:c.5022T>C	ENSP00000399232.2:p.Pro1674=
ENST00000497886.5:n.3054T>C
ENST00000568454.5:c.5163T>C	ENSP00000454487.1:p.Pro1721=
ENST00000569110.1:c.1513T>C
ENST00000569930.1:n.2446T>C
NM_000548.3:c.5331T>C , LRG_487t1:c.5331T>C	NP_000539.2:p.Pro1777=
NM_001077183.1:c.5130T>C	NP_001070651.1:p.Pro1710=
NM_001114382.1:c.5262T>C	NP_001107854.1:p.Pro1754=
XM_005255529.3:c.5202T>C	XP_005255586.2:p.Pro1734=
XM_005255531.3:c.5133T>C	XP_005255588.2:p.Pro1711=
XM_011522636.1:c.5385T>C	XP_011520938.1:p.Pro1795=
XM_011522637.1:c.5382T>C	XP_011520939.1:p.Pro1794=
XM_011522638.1:c.5274T>C	XP_011520940.1:p.Pro1758=
XM_011522639.1:c.5256T>C	XP_011520941.1:p.Pro1752=
XM_011522640.1:c.5253T>C	XP_011520942.1:p.Pro1751=
XM_011522641.1:c.5022T>C	XP_011520943.1:p.Pro1674=
NM_000548.4:c.5331T>C	NP_000539.2:p.Pro1777=
NM_001077183.2:c.5130T>C	NP_001070651.1:p.Pro1710=
NM_001114382.2:c.5262T>C	NP_001107854.1:p.Pro1754=
NM_001318827.1:c.5022T>C	NP_001305756.1:p.Pro1674=
NM_001318829.1:c.4986T>C	NP_001305758.1:p.Pro1662=
NM_001318831.1:c.4599T>C	NP_001305760.1:p.Pro1533=
NM_001318832.1:c.5163T>C	NP_001305761.1:p.Pro1721=
NM_001363528.1:c.5133T>C	NP_001350457.1:p.Pro1711=
NM_021055.2:c.5202T>C	NP_066399.2:p.Pro1734=
XM_005255531.4:c.5133T>C	XP_005255588.2:p.Pro1711=
XM_011522636.2:c.5385T>C	XP_011520938.1:p.Pro1795=
XM_011522637.2:c.5382T>C	XP_011520939.1:p.Pro1794=
XM_011522638.2:c.5547T>C	XP_011520940.2:p.Pro1849=
XM_011522639.2:c.5256T>C	XP_011520941.1:p.Pro1752=
XM_011522640.2:c.5253T>C	XP_011520942.1:p.Pro1751=
XM_017023615.1:c.5328T>C	XP_016879104.1:p.Pro1776=
XM_017023616.1:c.5199T>C	XP_016879105.1:p.Pro1733=
XM_017023617.1:c.5295T>C	XP_016879106.1:p.Pro1765=
XM_017023618.1:c.4041T>C	XP_016879107.1:p.Pro1347=
XM_024450413.1:c.5217T>C	XP_024306181.1:p.Pro1739=
NM_000548.5:c.5331T>C MANE Select	NP_000539.2:p.Pro1777=
NM_001370404.1:c.5199T>C	NP_001357333.1:p.Pro1733=
NM_001370405.1:c.5190T>C	NP_001357334.1:p.Pro1730=
NM_001077183.3:c.5130T>C	NP_001070651.1:p.Pro1710=
NM_001114382.3:c.5262T>C	NP_001107854.1:p.Pro1754=
NM_001318827.2:c.5022T>C	NP_001305756.1:p.Pro1674=
NM_001318829.2:c.4986T>C	NP_001305758.1:p.Pro1662=
NM_001318831.2:c.4599T>C	NP_001305760.1:p.Pro1533=
NM_001318832.2:c.5163T>C	NP_001305761.1:p.Pro1721=
NM_001363528.2:c.5133T>C	NP_001350457.1:p.Pro1711=
NM_021055.3:c.5202T>C	NP_066399.2:p.Pro1734=