Canonical Allele Identifier: CA054307

Gene: TSC2

Linked Data

• ClinVar Variation Id: 406062
• ClinVar RCV Id: RCV000658430 ; RCV001086881 ; RCV002257695
• dbSNP Id: rs45517407
• ExAC: 16:2138228 A / G
• gnomAD v2: 16-2138228-A-G
• gnomAD v3: 16-2088227-A-G
• gnomAD v4: 16-2088227-A-G
• MyVariant Identifiers: chr16:g.2138228A>G (hg19) ; chr16:g.2088227A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088227A>G , CM000678.2:g.2088227A>G	GRCh38
NC_000016.9:g.2138228A>G , CM000678.1:g.2138228A>G	GRCh37
NC_000016.8:g.2078229A>G	NCBI36
NG_005895.1:g.43922A>G , LRG_487:g.43922A>G
NG_008617.1:g.54994T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3510A>G	ENSP00000455997.2:n.*3510A>G
ENST00000642206.2:c.5008A>G	ENSP00000495146.2:p.Met1670Val
ENST00000642365.2:c.5158A>G	ENSP00000495459.2:p.Met1720Val
ENST00000644417.2:c.*5674A>G	ENSP00000493912.2:n.*5674A>G
ENST00000646464.2:c.*7910A>G	ENSP00000496610.2:n.*7910A>G
ENST00000219476.9:c.5161A>G MANE Select	ENSP00000219476.3:p.Met1721Val
ENST00000350773.9:c.5092A>G	ENSP00000344383.4:p.Met1698Val
ENST00000401874.7:c.4960A>G	ENSP00000384468.2:p.Met1654Val
ENST00000568454.6:c.4993A>G	ENSP00000454487.1:p.Met1665Val
ENST00000569110.2:c.1384A>G
ENST00000569930.2:n.3043A>G
ENST00000642365.1:c.3815A>G
ENST00000642561.1:c.5032-12A>G	ENSP00000495099.1:n.5032-12A>G
ENST00000642791.1:n.758A>G
ENST00000642797.1:c.4963A>G	ENSP00000493846.1:p.Met1655Val
ENST00000642936.1:c.5029A>G	ENSP00000494514.1:p.Met1677Val
ENST00000643088.1:c.4954A>G	ENSP00000494747.1:p.Met1652Val
ENST00000643426.1:n.2809A>G
ENST00000643946.1:c.5086A>G	ENSP00000495927.1:p.Met1696Val
ENST00000644043.1:c.5032A>G	ENSP00000496262.1:p.Met1678Val
ENST00000644329.1:c.5047A>G	ENSP00000496611.1:p.Met1683Val
ENST00000644335.1:c.4957A>G	ENSP00000496317.1:p.Met1653Val
ENST00000644399.1:c.5082A>G
ENST00000645024.1:n.3245A>G
ENST00000646388.1:c.5155A>G	ENSP00000495921.1:p.Met1719Val
ENST00000646634.1:n.3976A>G
ENST00000646674.1:n.2413A>G
ENST00000647042.1:n.2384A>G
ENST00000647180.1:n.2274A>G
ENST00000219476.7:c.5161A>G	ENSP00000219476.3:p.Met1721Val
ENST00000350773.8:c.5092A>G	ENSP00000344383.4:p.Met1698Val
ENST00000382538.10:c.4816A>G	ENSP00000371978.6:p.Met1606Val
ENST00000401874.6:c.4960A>G	ENSP00000384468.2:p.Met1654Val
ENST00000439117.6:c.*4328A>G	ENSP00000406980.2:n.*4328A>G
ENST00000439673.6:c.4852A>G	ENSP00000399232.2:p.Met1618Val
ENST00000497886.5:n.2884A>G
ENST00000568454.5:c.4993A>G	ENSP00000454487.1:p.Met1665Val
ENST00000569110.1:c.1343A>G
ENST00000569930.1:n.2276A>G
NM_000548.3:c.5161A>G , LRG_487t1:c.5161A>G	NP_000539.2:p.Met1721Val
NM_001077183.1:c.4960A>G	NP_001070651.1:p.Met1654Val
NM_001114382.1:c.5092A>G	NP_001107854.1:p.Met1698Val
XM_005255529.3:c.5032A>G	XP_005255586.2:p.Met1678Val
XM_005255531.3:c.4963A>G	XP_005255588.2:p.Met1655Val
XM_011522636.1:c.5215A>G	XP_011520938.1:p.Met1739Val
XM_011522637.1:c.5212A>G	XP_011520939.1:p.Met1738Val
XM_011522638.1:c.5104A>G	XP_011520940.1:p.Met1702Val
XM_011522639.1:c.5086A>G	XP_011520941.1:p.Met1696Val
XM_011522640.1:c.5083A>G	XP_011520942.1:p.Met1695Val
XM_011522641.1:c.4852A>G	XP_011520943.1:p.Met1618Val
NM_000548.4:c.5161A>G	NP_000539.2:p.Met1721Val
NM_001077183.2:c.4960A>G	NP_001070651.1:p.Met1654Val
NM_001114382.2:c.5092A>G	NP_001107854.1:p.Met1698Val
NM_001318827.1:c.4852A>G	NP_001305756.1:p.Met1618Val
NM_001318829.1:c.4816A>G	NP_001305758.1:p.Met1606Val
NM_001318831.1:c.4429A>G	NP_001305760.1:p.Met1477Val
NM_001318832.1:c.4993A>G	NP_001305761.1:p.Met1665Val
NM_001363528.1:c.4963A>G	NP_001350457.1:p.Met1655Val
NM_021055.2:c.5032A>G	NP_066399.2:p.Met1678Val
XM_005255531.4:c.4963A>G	XP_005255588.2:p.Met1655Val
XM_011522636.2:c.5215A>G	XP_011520938.1:p.Met1739Val
XM_011522637.2:c.5212A>G	XP_011520939.1:p.Met1738Val
XM_011522638.2:c.5377A>G	XP_011520940.2:p.Met1793Val
XM_011522639.2:c.5086A>G	XP_011520941.1:p.Met1696Val
XM_011522640.2:c.5083A>G	XP_011520942.1:p.Met1695Val
XM_017023615.1:c.5158A>G	XP_016879104.1:p.Met1720Val
XM_017023616.1:c.5029A>G	XP_016879105.1:p.Met1677Val
XM_017023617.1:c.5125A>G	XP_016879106.1:p.Met1709Val
XM_017023618.1:c.3871A>G	XP_016879107.1:p.Met1291Val
XM_024450413.1:c.5047A>G	XP_024306181.1:p.Met1683Val
NM_000548.5:c.5161A>G MANE Select	NP_000539.2:p.Met1721Val
NM_001370404.1:c.5029A>G	NP_001357333.1:p.Met1677Val
NM_001370405.1:c.5032-12A>G	NP_001357334.1:n.5032-12A>G
NM_001077183.3:c.4960A>G	NP_001070651.1:p.Met1654Val
NM_001114382.3:c.5092A>G	NP_001107854.1:p.Met1698Val
NM_001318827.2:c.4852A>G	NP_001305756.1:p.Met1618Val
NM_001318829.2:c.4816A>G	NP_001305758.1:p.Met1606Val
NM_001318831.2:c.4429A>G	NP_001305760.1:p.Met1477Val
NM_001318832.2:c.4993A>G	NP_001305761.1:p.Met1665Val
NM_001363528.2:c.4963A>G	NP_001350457.1:p.Met1655Val
NM_021055.3:c.5032A>G	NP_066399.2:p.Met1678Val