Canonical Allele Identifier: CA019446

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49269
• ClinVar RCV Id: RCV000042528 ; RCV000543360
• dbSNP Id: rs45517305
• gnomAD v4: 16-2081646-C-A
• COSMIC: COSM1609072 ; COSM1609073
• MyVariant Identifiers: chr16:g.2131647C>A (hg19) ; chr16:g.2081646C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081646C>A , CM000678.2:g.2081646C>A	GRCh38
NC_000016.9:g.2131647C>A , CM000678.1:g.2131647C>A	GRCh37
NC_000016.8:g.2071648C>A	NCBI36
NG_005895.1:g.37341C>A , LRG_487:g.37341C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2080C>A	ENSP00000455997.2:n.*2080C>A
ENST00000642206.2:c.3578C>A	ENSP00000495146.2:p.Ser1193Ter
ENST00000642365.2:c.3659C>A	ENSP00000495459.2:p.Ser1220Ter
ENST00000644417.2:c.*4111C>A	ENSP00000493912.2:n.*4111C>A
ENST00000646464.2:c.*4584C>A	ENSP00000496610.2:n.*4584C>A
ENST00000219476.9:c.3662C>A MANE Select	ENSP00000219476.3:p.Ser1221Ter
ENST00000350773.9:c.3662C>A	ENSP00000344383.4:p.Ser1221Ter
ENST00000401874.7:c.3530C>A	ENSP00000384468.2:p.Ser1177Ter
ENST00000568454.6:c.3563C>A	ENSP00000454487.1:p.Ser1188Ter
ENST00000642365.1:c.2316C>A
ENST00000642561.1:c.3533C>A	ENSP00000495099.1:p.Ser1178Ter
ENST00000642797.1:c.3533C>A	ENSP00000493846.1:p.Ser1178Ter
ENST00000642936.1:c.3530C>A	ENSP00000494514.1:p.Ser1177Ter
ENST00000643088.1:c.3530C>A	ENSP00000494747.1:p.Ser1177Ter
ENST00000643426.1:n.1310C>A
ENST00000643533.1:n.172C>A
ENST00000643946.1:c.3662C>A	ENSP00000495927.1:p.Ser1221Ter
ENST00000644043.1:c.3533C>A	ENSP00000496262.1:p.Ser1178Ter
ENST00000644329.1:c.3530C>A	ENSP00000496611.1:p.Ser1177Ter
ENST00000644335.1:c.3533C>A	ENSP00000496317.1:p.Ser1178Ter
ENST00000644399.1:c.3652C>A
ENST00000644722.1:n.808C>A
ENST00000645024.1:n.1815C>A
ENST00000646388.1:c.3662C>A	ENSP00000495921.1:p.Ser1221Ter
ENST00000646634.1:n.2546C>A
ENST00000646674.1:n.277C>A
ENST00000647042.1:n.954C>A
ENST00000647180.1:n.142C>A
ENST00000219476.7:c.3662C>A	ENSP00000219476.3:p.Ser1221Ter
ENST00000350773.8:c.3662C>A	ENSP00000344383.4:p.Ser1221Ter
ENST00000382538.10:c.3386C>A	ENSP00000371978.6:p.Ser1129Ter
ENST00000401874.6:c.3530C>A	ENSP00000384468.2:p.Ser1177Ter
ENST00000439117.6:c.*2829C>A	ENSP00000406980.2:n.*2829C>A
ENST00000439673.6:c.3422C>A	ENSP00000399232.2:p.Ser1141Ter
ENST00000497886.5:n.1489C>A
ENST00000568454.5:c.3563C>A	ENSP00000454487.1:p.Ser1188Ter
NM_000548.3:c.3662C>A , LRG_487t1:c.3662C>A	NP_000539.2:p.Ser1221Ter
NM_001077183.1:c.3530C>A	NP_001070651.1:p.Ser1177Ter
NM_001114382.1:c.3662C>A	NP_001107854.1:p.Ser1221Ter
XM_005255529.3:c.3533C>A	XP_005255586.2:p.Ser1178Ter
XM_005255531.3:c.3533C>A	XP_005255588.2:p.Ser1178Ter
XM_011522636.1:c.3662C>A	XP_011520938.1:p.Ser1221Ter
XM_011522637.1:c.3659C>A	XP_011520939.1:p.Ser1220Ter
XM_011522638.1:c.3551C>A	XP_011520940.1:p.Ser1184Ter
XM_011522639.1:c.3533C>A	XP_011520941.1:p.Ser1178Ter
XM_011522640.1:c.3530C>A	XP_011520942.1:p.Ser1177Ter
XM_011522641.1:c.3422C>A	XP_011520943.1:p.Ser1141Ter
NM_000548.4:c.3662C>A	NP_000539.2:p.Ser1221Ter
NM_001077183.2:c.3530C>A	NP_001070651.1:p.Ser1177Ter
NM_001114382.2:c.3662C>A	NP_001107854.1:p.Ser1221Ter
NM_001318827.1:c.3422C>A	NP_001305756.1:p.Ser1141Ter
NM_001318829.1:c.3386C>A	NP_001305758.1:p.Ser1129Ter
NM_001318831.1:c.2930C>A	NP_001305760.1:p.Ser977Ter
NM_001318832.1:c.3563C>A	NP_001305761.1:p.Ser1188Ter
NM_001363528.1:c.3533C>A	NP_001350457.1:p.Ser1178Ter
NM_021055.2:c.3533C>A	NP_066399.2:p.Ser1178Ter
XM_005255531.4:c.3533C>A	XP_005255588.2:p.Ser1178Ter
XM_011522636.2:c.3662C>A	XP_011520938.1:p.Ser1221Ter
XM_011522637.2:c.3659C>A	XP_011520939.1:p.Ser1220Ter
XM_011522638.2:c.3824C>A	XP_011520940.2:p.Ser1275Ter
XM_011522639.2:c.3533C>A	XP_011520941.1:p.Ser1178Ter
XM_011522640.2:c.3530C>A	XP_011520942.1:p.Ser1177Ter
XM_017023615.1:c.3659C>A	XP_016879104.1:p.Ser1220Ter
XM_017023616.1:c.3530C>A	XP_016879105.1:p.Ser1177Ter
XM_017023617.1:c.3695C>A	XP_016879106.1:p.Ser1232Ter
XM_017023618.1:c.2318C>A	XP_016879107.1:p.Ser773Ter
XM_024450413.1:c.3530C>A	XP_024306181.1:p.Ser1177Ter
NM_000548.5:c.3662C>A MANE Select	NP_000539.2:p.Ser1221Ter
NM_001370404.1:c.3530C>A	NP_001357333.1:p.Ser1177Ter
NM_001370405.1:c.3533C>A	NP_001357334.1:p.Ser1178Ter
NM_001077183.3:c.3530C>A	NP_001070651.1:p.Ser1177Ter
NM_001114382.3:c.3662C>A	NP_001107854.1:p.Ser1221Ter
NM_001318827.2:c.3422C>A	NP_001305756.1:p.Ser1141Ter
NM_001318829.2:c.3386C>A	NP_001305758.1:p.Ser1129Ter
NM_001318831.2:c.2930C>A	NP_001305760.1:p.Ser977Ter
NM_001318832.2:c.3563C>A	NP_001305761.1:p.Ser1188Ter
NM_001363528.2:c.3533C>A	NP_001350457.1:p.Ser1178Ter
NM_021055.3:c.3533C>A	NP_066399.2:p.Ser1178Ter