Canonical Allele Identifier: CA022218

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49960
• ClinVar RCV Id: RCV000043227 ; RCV000190035 ; RCV000201149 ; RCV002336163
• dbSNP Id: rs45507199
• gnomAD v2: 16-2138295-G-A
• COSMIC: COSM1577252
• MyVariant Identifiers: chr16:g.2138295G>A (hg19) ; chr16:g.2088294G>A (hg38)
• PubMed: PMID:10732801 ; PMID:16114042 ; PMID:16237225 ; PMID:16981987 ; PMID:17304050 ; PMID:18854862 ; PMID:20165957 ; PMID:21309039 ; PMID:22867869

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088294G>A , CM000678.2:g.2088294G>A	GRCh38
NC_000016.9:g.2138295G>A , CM000678.1:g.2138295G>A	GRCh37
NC_000016.8:g.2078296G>A	NCBI36
NG_005895.1:g.43989G>A , LRG_487:g.43989G>A
NG_008617.1:g.54927C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3577G>A	ENSP00000455997.2:n.*3577G>A
ENST00000642206.2:c.5075G>A	ENSP00000495146.2:p.Arg1692Gln
ENST00000642365.2:c.5225G>A	ENSP00000495459.2:p.Arg1742Gln
ENST00000644417.2:c.*5741G>A	ENSP00000493912.2:n.*5741G>A
ENST00000646464.2:c.*7977G>A	ENSP00000496610.2:n.*7977G>A
ENST00000219476.9:c.5228G>A MANE Select	ENSP00000219476.3:p.Arg1743Gln
ENST00000350773.9:c.5159G>A	ENSP00000344383.4:p.Arg1720Gln
ENST00000401874.7:c.5027G>A	ENSP00000384468.2:p.Arg1676Gln
ENST00000568454.6:c.5060G>A	ENSP00000454487.1:p.Arg1687Gln
ENST00000569110.2:c.1451G>A
ENST00000569930.2:n.3110G>A
ENST00000642365.1:c.3882G>A
ENST00000642561.1:c.5087G>A	ENSP00000495099.1:p.Arg1696Gln
ENST00000642791.1:n.825G>A
ENST00000642797.1:c.5030G>A	ENSP00000493846.1:p.Arg1677Gln
ENST00000642936.1:c.5096G>A	ENSP00000494514.1:p.Arg1699Gln
ENST00000643088.1:c.5021G>A	ENSP00000494747.1:p.Arg1674Gln
ENST00000643426.1:n.2876G>A
ENST00000643946.1:c.5153G>A	ENSP00000495927.1:p.Arg1718Gln
ENST00000644043.1:c.5099G>A	ENSP00000496262.1:p.Arg1700Gln
ENST00000644329.1:c.5114G>A	ENSP00000496611.1:p.Arg1705Gln
ENST00000644335.1:c.5024G>A	ENSP00000496317.1:p.Arg1675Gln
ENST00000644399.1:c.5149G>A
ENST00000645024.1:n.3312G>A
ENST00000646388.1:c.5222G>A	ENSP00000495921.1:p.Arg1741Gln
ENST00000646634.1:n.4043G>A
ENST00000646674.1:n.2480G>A
ENST00000647042.1:n.2451G>A
ENST00000647180.1:n.2341G>A
ENST00000219476.7:c.5228G>A	ENSP00000219476.3:p.Arg1743Gln
ENST00000350773.8:c.5159G>A	ENSP00000344383.4:p.Arg1720Gln
ENST00000382538.10:c.4883G>A	ENSP00000371978.6:p.Arg1628Gln
ENST00000401874.6:c.5027G>A	ENSP00000384468.2:p.Arg1676Gln
ENST00000439117.6:c.*4395G>A	ENSP00000406980.2:n.*4395G>A
ENST00000439673.6:c.4919G>A	ENSP00000399232.2:p.Arg1640Gln
ENST00000497886.5:n.2951G>A
ENST00000568454.5:c.5060G>A	ENSP00000454487.1:p.Arg1687Gln
ENST00000569110.1:c.1410G>A
ENST00000569930.1:n.2343G>A
NM_000548.3:c.5228G>A , LRG_487t1:c.5228G>A	NP_000539.2:p.Arg1743Gln
NM_001077183.1:c.5027G>A	NP_001070651.1:p.Arg1676Gln
NM_001114382.1:c.5159G>A	NP_001107854.1:p.Arg1720Gln
XM_005255529.3:c.5099G>A	XP_005255586.2:p.Arg1700Gln
XM_005255531.3:c.5030G>A	XP_005255588.2:p.Arg1677Gln
XM_011522636.1:c.5282G>A	XP_011520938.1:p.Arg1761Gln
XM_011522637.1:c.5279G>A	XP_011520939.1:p.Arg1760Gln
XM_011522638.1:c.5171G>A	XP_011520940.1:p.Arg1724Gln
XM_011522639.1:c.5153G>A	XP_011520941.1:p.Arg1718Gln
XM_011522640.1:c.5150G>A	XP_011520942.1:p.Arg1717Gln
XM_011522641.1:c.4919G>A	XP_011520943.1:p.Arg1640Gln
NM_000548.4:c.5228G>A	NP_000539.2:p.Arg1743Gln
NM_001077183.2:c.5027G>A	NP_001070651.1:p.Arg1676Gln
NM_001114382.2:c.5159G>A	NP_001107854.1:p.Arg1720Gln
NM_001318827.1:c.4919G>A	NP_001305756.1:p.Arg1640Gln
NM_001318829.1:c.4883G>A	NP_001305758.1:p.Arg1628Gln
NM_001318831.1:c.4496G>A	NP_001305760.1:p.Arg1499Gln
NM_001318832.1:c.5060G>A	NP_001305761.1:p.Arg1687Gln
NM_001363528.1:c.5030G>A	NP_001350457.1:p.Arg1677Gln
NM_021055.2:c.5099G>A	NP_066399.2:p.Arg1700Gln
XM_005255531.4:c.5030G>A	XP_005255588.2:p.Arg1677Gln
XM_011522636.2:c.5282G>A	XP_011520938.1:p.Arg1761Gln
XM_011522637.2:c.5279G>A	XP_011520939.1:p.Arg1760Gln
XM_011522638.2:c.5444G>A	XP_011520940.2:p.Arg1815Gln
XM_011522639.2:c.5153G>A	XP_011520941.1:p.Arg1718Gln
XM_011522640.2:c.5150G>A	XP_011520942.1:p.Arg1717Gln
XM_017023615.1:c.5225G>A	XP_016879104.1:p.Arg1742Gln
XM_017023616.1:c.5096G>A	XP_016879105.1:p.Arg1699Gln
XM_017023617.1:c.5192G>A	XP_016879106.1:p.Arg1731Gln
XM_017023618.1:c.3938G>A	XP_016879107.1:p.Arg1313Gln
XM_024450413.1:c.5114G>A	XP_024306181.1:p.Arg1705Gln
NM_000548.5:c.5228G>A MANE Select	NP_000539.2:p.Arg1743Gln
NM_001370404.1:c.5096G>A	NP_001357333.1:p.Arg1699Gln
NM_001370405.1:c.5087G>A	NP_001357334.1:p.Arg1696Gln
NM_001077183.3:c.5027G>A	NP_001070651.1:p.Arg1676Gln
NM_001114382.3:c.5159G>A	NP_001107854.1:p.Arg1720Gln
NM_001318827.2:c.4919G>A	NP_001305756.1:p.Arg1640Gln
NM_001318829.2:c.4883G>A	NP_001305758.1:p.Arg1628Gln
NM_001318831.2:c.4496G>A	NP_001305760.1:p.Arg1499Gln
NM_001318832.2:c.5060G>A	NP_001305761.1:p.Arg1687Gln
NM_001363528.2:c.5030G>A	NP_001350457.1:p.Arg1677Gln
NM_021055.3:c.5099G>A	NP_066399.2:p.Arg1700Gln