Canonical Allele Identifier: CA394311437

Gene: TSC2

Linked Data

• ClinVar Variation Id: 486644
• ClinVar RCV Id: RCV000567505 ; RCV001065808 ; RCV001764691 ; RCV003465277
• dbSNP Id: rs1200837034
• gnomAD v2: 16-2137915-A-G
• MyVariant Identifiers: chr16:g.2137915A>G (hg19) ; chr16:g.2087914A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2087914A>G , CM000678.2:g.2087914A>G	GRCh38
NC_000016.9:g.2137915A>G , CM000678.1:g.2137915A>G	GRCh37
NC_000016.8:g.2077916A>G	NCBI36
NG_005895.1:g.43609A>G , LRG_487:g.43609A>G
NG_008617.1:g.55307T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3390A>G	ENSP00000455997.2:n.*3390A>G
ENST00000642206.2:c.4888A>G	ENSP00000495146.2:p.Asn1630Asp
ENST00000642365.2:c.5038A>G	ENSP00000495459.2:p.Asn1680Asp
ENST00000644417.2:c.*5554A>G	ENSP00000493912.2:n.*5554A>G
ENST00000646464.2:c.*7790A>G	ENSP00000496610.2:n.*7790A>G
ENST00000219476.9:c.5041A>G MANE Select	ENSP00000219476.3:p.Asn1681Asp
ENST00000350773.9:c.4972A>G	ENSP00000344383.4:p.Asn1658Asp
ENST00000401874.7:c.4840A>G	ENSP00000384468.2:p.Asn1614Asp
ENST00000568454.6:c.4873A>G	ENSP00000454487.1:p.Asn1625Asp
ENST00000569110.2:c.1264A>G
ENST00000569930.2:n.2923A>G
ENST00000642365.1:c.3695A>G
ENST00000642561.1:c.4912A>G	ENSP00000495099.1:p.Asn1638Asp
ENST00000642791.1:n.638A>G
ENST00000642797.1:c.4843A>G	ENSP00000493846.1:p.Asn1615Asp
ENST00000642936.1:c.4909A>G	ENSP00000494514.1:p.Asn1637Asp
ENST00000643088.1:c.4834A>G	ENSP00000494747.1:p.Asn1612Asp
ENST00000643177.1:n.1055A>G
ENST00000643426.1:n.2689A>G
ENST00000643946.1:c.4966A>G	ENSP00000495927.1:p.Asn1656Asp
ENST00000644043.1:c.4912A>G	ENSP00000496262.1:p.Asn1638Asp
ENST00000644278.1:n.523A>G
ENST00000644329.1:c.4840A>G	ENSP00000496611.1:p.Asn1614Asp
ENST00000644335.1:c.4837A>G	ENSP00000496317.1:p.Asn1613Asp
ENST00000644399.1:c.4962A>G
ENST00000645024.1:n.3125A>G
ENST00000646388.1:c.5035A>G	ENSP00000495921.1:p.Asn1679Asp
ENST00000646634.1:n.3856A>G
ENST00000646674.1:n.2293A>G
ENST00000647042.1:n.2264A>G
ENST00000647180.1:n.2154A>G
ENST00000219476.7:c.5041A>G	ENSP00000219476.3:p.Asn1681Asp
ENST00000350773.8:c.4972A>G	ENSP00000344383.4:p.Asn1658Asp
ENST00000382538.10:c.4696A>G	ENSP00000371978.6:p.Asn1566Asp
ENST00000401874.6:c.4840A>G	ENSP00000384468.2:p.Asn1614Asp
ENST00000439117.6:c.*4208A>G	ENSP00000406980.2:n.*4208A>G
ENST00000439673.6:c.4732A>G	ENSP00000399232.2:p.Asn1578Asp
ENST00000497886.5:n.2764A>G
ENST00000568454.5:c.4873A>G	ENSP00000454487.1:p.Asn1625Asp
ENST00000569110.1:c.1223A>G
ENST00000569930.1:n.2156A>G
NM_000548.3:c.5041A>G , LRG_487t1:c.5041A>G	NP_000539.2:p.Asn1681Asp
NM_001077183.1:c.4840A>G	NP_001070651.1:p.Asn1614Asp
NM_001114382.1:c.4972A>G	NP_001107854.1:p.Asn1658Asp
XM_005255529.3:c.4912A>G	XP_005255586.2:p.Asn1638Asp
XM_005255531.3:c.4843A>G	XP_005255588.2:p.Asn1615Asp
XM_011522636.1:c.5095A>G	XP_011520938.1:p.Asn1699Asp
XM_011522637.1:c.5092A>G	XP_011520939.1:p.Asn1698Asp
XM_011522638.1:c.4984A>G	XP_011520940.1:p.Asn1662Asp
XM_011522639.1:c.4966A>G	XP_011520941.1:p.Asn1656Asp
XM_011522640.1:c.4963A>G	XP_011520942.1:p.Asn1655Asp
XM_011522641.1:c.4732A>G	XP_011520943.1:p.Asn1578Asp
NM_000548.4:c.5041A>G	NP_000539.2:p.Asn1681Asp
NM_001077183.2:c.4840A>G	NP_001070651.1:p.Asn1614Asp
NM_001114382.2:c.4972A>G	NP_001107854.1:p.Asn1658Asp
NM_001318827.1:c.4732A>G	NP_001305756.1:p.Asn1578Asp
NM_001318829.1:c.4696A>G	NP_001305758.1:p.Asn1566Asp
NM_001318831.1:c.4309A>G	NP_001305760.1:p.Asn1437Asp
NM_001318832.1:c.4873A>G	NP_001305761.1:p.Asn1625Asp
NM_001363528.1:c.4843A>G	NP_001350457.1:p.Asn1615Asp
NM_021055.2:c.4912A>G	NP_066399.2:p.Asn1638Asp
XM_005255531.4:c.4843A>G	XP_005255588.2:p.Asn1615Asp
XM_011522636.2:c.5095A>G	XP_011520938.1:p.Asn1699Asp
XM_011522637.2:c.5092A>G	XP_011520939.1:p.Asn1698Asp
XM_011522638.2:c.5257A>G	XP_011520940.2:p.Asn1753Asp
XM_011522639.2:c.4966A>G	XP_011520941.1:p.Asn1656Asp
XM_011522640.2:c.4963A>G	XP_011520942.1:p.Asn1655Asp
XM_017023615.1:c.5038A>G	XP_016879104.1:p.Asn1680Asp
XM_017023616.1:c.4909A>G	XP_016879105.1:p.Asn1637Asp
XM_017023617.1:c.5005A>G	XP_016879106.1:p.Asn1669Asp
XM_017023618.1:c.3751A>G	XP_016879107.1:p.Asn1251Asp
XM_024450413.1:c.4840A>G	XP_024306181.1:p.Asn1614Asp
NM_000548.5:c.5041A>G MANE Select	NP_000539.2:p.Asn1681Asp
NM_001370404.1:c.4909A>G	NP_001357333.1:p.Asn1637Asp
NM_001370405.1:c.4912A>G	NP_001357334.1:p.Asn1638Asp
NM_001077183.3:c.4840A>G	NP_001070651.1:p.Asn1614Asp
NM_001114382.3:c.4972A>G	NP_001107854.1:p.Asn1658Asp
NM_001318827.2:c.4732A>G	NP_001305756.1:p.Asn1578Asp
NM_001318829.2:c.4696A>G	NP_001305758.1:p.Asn1566Asp
NM_001318831.2:c.4309A>G	NP_001305760.1:p.Asn1437Asp
NM_001318832.2:c.4873A>G	NP_001305761.1:p.Asn1625Asp
NM_001363528.2:c.4843A>G	NP_001350457.1:p.Asn1615Asp
NM_021055.3:c.4912A>G	NP_066399.2:p.Asn1638Asp