Canonical Allele Identifier: CA319383

Gene: TSC2

Linked Data

• ClinVar Variation Id: 207682
• ClinVar RCV Id: RCV000189928 ; RCV001852522 ; RCV003298247
• dbSNP Id: rs762368225
• MyVariant Identifiers: chr16:g.2134421G>A (hg19) ; chr16:g.2084420G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084420G>A , CM000678.2:g.2084420G>A	GRCh38
NC_000016.9:g.2134421G>A , CM000678.1:g.2134421G>A	GRCh37
NC_000016.8:g.2074422G>A	NCBI36
NG_005895.1:g.40115G>A , LRG_487:g.40115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2547G>A	ENSP00000455997.2:n.*2547G>A
ENST00000642206.2:c.4045G>A	ENSP00000495146.2:p.Asp1349Asn
ENST00000642365.2:c.4195G>A	ENSP00000495459.2:p.Asp1399Asn
ENST00000644417.2:c.*4578G>A	ENSP00000493912.2:n.*4578G>A
ENST00000646464.2:c.*6947G>A	ENSP00000496610.2:n.*6947G>A
ENST00000219476.9:c.4198G>A MANE Select	ENSP00000219476.3:p.Asp1400Asn
ENST00000350773.9:c.4129G>A	ENSP00000344383.4:p.Asp1377Asn
ENST00000401874.7:c.3997G>A	ENSP00000384468.2:p.Asp1333Asn
ENST00000568454.6:c.4030G>A	ENSP00000454487.1:p.Asp1344Asn
ENST00000569110.2:c.434G>A
ENST00000569930.2:n.2080G>A
ENST00000642365.1:c.2852G>A
ENST00000642561.1:c.4069G>A	ENSP00000495099.1:p.Asp1357Asn
ENST00000642728.1:n.380G>A
ENST00000642797.1:c.4000G>A	ENSP00000493846.1:p.Asp1334Asn
ENST00000642936.1:c.4066G>A	ENSP00000494514.1:p.Asp1356Asn
ENST00000643088.1:c.3997G>A	ENSP00000494747.1:p.Asp1333Asn
ENST00000643177.1:n.212G>A
ENST00000643426.1:n.1846G>A
ENST00000643946.1:c.4129G>A	ENSP00000495927.1:p.Asp1377Asn
ENST00000644043.1:c.4069G>A	ENSP00000496262.1:p.Asp1357Asn
ENST00000644329.1:c.3997G>A	ENSP00000496611.1:p.Asp1333Asn
ENST00000644335.1:c.4000G>A	ENSP00000496317.1:p.Asp1334Asn
ENST00000644399.1:c.4119G>A
ENST00000645024.1:n.2282G>A
ENST00000645186.1:c.441G>A
ENST00000646388.1:c.4198G>A	ENSP00000495921.1:p.Asp1400Asn
ENST00000646634.1:n.3013G>A
ENST00000646674.1:n.1450G>A
ENST00000647042.1:n.1421G>A
ENST00000647180.1:n.1311G>A
ENST00000219476.7:c.4198G>A	ENSP00000219476.3:p.Asp1400Asn
ENST00000350773.8:c.4129G>A	ENSP00000344383.4:p.Asp1377Asn
ENST00000382538.10:c.3853G>A	ENSP00000371978.6:p.Asp1285Asn
ENST00000401874.6:c.3997G>A	ENSP00000384468.2:p.Asp1333Asn
ENST00000439117.6:c.*3365G>A	ENSP00000406980.2:n.*3365G>A
ENST00000439673.6:c.3889G>A	ENSP00000399232.2:p.Asp1297Asn
ENST00000497886.5:n.1956G>A
ENST00000568454.5:c.4030G>A	ENSP00000454487.1:p.Asp1344Asn
ENST00000569110.1:c.380G>A
ENST00000569930.1:n.1313G>A
NM_000548.3:c.4198G>A , LRG_487t1:c.4198G>A	NP_000539.2:p.Asp1400Asn
NM_001077183.1:c.3997G>A	NP_001070651.1:p.Asp1333Asn
NM_001114382.1:c.4129G>A	NP_001107854.1:p.Asp1377Asn
XM_005255529.3:c.4069G>A	XP_005255586.2:p.Asp1357Asn
XM_005255531.3:c.4000G>A	XP_005255588.2:p.Asp1334Asn
XM_011522636.1:c.4252G>A	XP_011520938.1:p.Asp1418Asn
XM_011522637.1:c.4249G>A	XP_011520939.1:p.Asp1417Asn
XM_011522638.1:c.4141G>A	XP_011520940.1:p.Asp1381Asn
XM_011522639.1:c.4123G>A	XP_011520941.1:p.Asp1375Asn
XM_011522640.1:c.4120G>A	XP_011520942.1:p.Asp1374Asn
XM_011522641.1:c.3889G>A	XP_011520943.1:p.Asp1297Asn
NM_000548.4:c.4198G>A	NP_000539.2:p.Asp1400Asn
NM_001077183.2:c.3997G>A	NP_001070651.1:p.Asp1333Asn
NM_001114382.2:c.4129G>A	NP_001107854.1:p.Asp1377Asn
NM_001318827.1:c.3889G>A	NP_001305756.1:p.Asp1297Asn
NM_001318829.1:c.3853G>A	NP_001305758.1:p.Asp1285Asn
NM_001318831.1:c.3466G>A	NP_001305760.1:p.Asp1156Asn
NM_001318832.1:c.4030G>A	NP_001305761.1:p.Asp1344Asn
NM_001363528.1:c.4000G>A	NP_001350457.1:p.Asp1334Asn
NM_021055.2:c.4069G>A	NP_066399.2:p.Asp1357Asn
XM_005255531.4:c.4000G>A	XP_005255588.2:p.Asp1334Asn
XM_011522636.2:c.4252G>A	XP_011520938.1:p.Asp1418Asn
XM_011522637.2:c.4249G>A	XP_011520939.1:p.Asp1417Asn
XM_011522638.2:c.4414G>A	XP_011520940.2:p.Asp1472Asn
XM_011522639.2:c.4123G>A	XP_011520941.1:p.Asp1375Asn
XM_011522640.2:c.4120G>A	XP_011520942.1:p.Asp1374Asn
XM_017023615.1:c.4195G>A	XP_016879104.1:p.Asp1399Asn
XM_017023616.1:c.4066G>A	XP_016879105.1:p.Asp1356Asn
XM_017023617.1:c.4162G>A	XP_016879106.1:p.Asp1388Asn
XM_017023618.1:c.2908G>A	XP_016879107.1:p.Asp970Asn
XM_024450413.1:c.3997G>A	XP_024306181.1:p.Asp1333Asn
NM_000548.5:c.4198G>A MANE Select	NP_000539.2:p.Asp1400Asn
NM_001370404.1:c.4066G>A	NP_001357333.1:p.Asp1356Asn
NM_001370405.1:c.4069G>A	NP_001357334.1:p.Asp1357Asn
NM_001077183.3:c.3997G>A	NP_001070651.1:p.Asp1333Asn
NM_001114382.3:c.4129G>A	NP_001107854.1:p.Asp1377Asn
NM_001318827.2:c.3889G>A	NP_001305756.1:p.Asp1297Asn
NM_001318829.2:c.3853G>A	NP_001305758.1:p.Asp1285Asn
NM_001318831.2:c.3466G>A	NP_001305760.1:p.Asp1156Asn
NM_001318832.2:c.4030G>A	NP_001305761.1:p.Asp1344Asn
NM_001363528.2:c.4000G>A	NP_001350457.1:p.Asp1334Asn
NM_021055.3:c.4069G>A	NP_066399.2:p.Asp1357Asn