Canonical Allele Identifier: CA018827

Gene: TSC2

Linked Data

• ClinVar Variation Id: 50058
• ClinVar RCV Id: RCV000043324 ; RCV001042713 ; RCV002321537 ; RCV003313034
• dbSNP Id: rs1555510754
• MyVariant Identifiers: chr16:g.2129429G>A (hg19) ; chr16:g.2079428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079428G>A , CM000678.2:g.2079428G>A	GRCh38
NC_000016.9:g.2129429G>A , CM000678.1:g.2129429G>A	GRCh37
NC_000016.8:g.2069430G>A	NCBI36
NG_005895.1:g.35123G>A , LRG_487:g.35123G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1702G>A	ENSP00000455997.2:n.*1702G>A
ENST00000642206.2:c.3200G>A	ENSP00000495146.2:p.Ser1067Asn
ENST00000642365.2:c.3281G>A	ENSP00000495459.2:p.Ser1094Asn
ENST00000644417.2:c.*3733G>A	ENSP00000493912.2:n.*3733G>A
ENST00000646464.2:c.*4206G>A	ENSP00000496610.2:n.*4206G>A
ENST00000219476.9:c.3284G>A MANE Select	ENSP00000219476.3:p.Ser1095Asn
ENST00000350773.9:c.3284G>A	ENSP00000344383.4:p.Ser1095Asn
ENST00000401874.7:c.3152G>A	ENSP00000384468.2:p.Ser1051Asn
ENST00000471143.6:c.512G>A	ENSP00000458541.2:n.512G>A
ENST00000568454.6:c.3185G>A	ENSP00000454487.1:p.Ser1062Asn
ENST00000642365.1:c.1938G>A
ENST00000642561.1:c.3155G>A	ENSP00000495099.1:p.Ser1052Asn
ENST00000642797.1:c.3155G>A	ENSP00000493846.1:p.Ser1052Asn
ENST00000642936.1:c.3152G>A	ENSP00000494514.1:p.Ser1051Asn
ENST00000643088.1:c.3152G>A	ENSP00000494747.1:p.Ser1051Asn
ENST00000643946.1:c.3284G>A	ENSP00000495927.1:p.Ser1095Asn
ENST00000644043.1:c.3155G>A	ENSP00000496262.1:p.Ser1052Asn
ENST00000644329.1:c.3152G>A	ENSP00000496611.1:p.Ser1051Asn
ENST00000644335.1:c.3155G>A	ENSP00000496317.1:p.Ser1052Asn
ENST00000644399.1:c.3274G>A
ENST00000644722.1:n.430G>A
ENST00000645024.1:n.1437G>A
ENST00000646388.1:c.3284G>A	ENSP00000495921.1:p.Ser1095Asn
ENST00000646634.1:n.2168G>A
ENST00000647042.1:n.576G>A
ENST00000219476.7:c.3284G>A	ENSP00000219476.3:p.Ser1095Asn
ENST00000350773.8:c.3284G>A	ENSP00000344383.4:p.Ser1095Asn
ENST00000382538.10:c.3008G>A	ENSP00000371978.6:p.Ser1003Asn
ENST00000401874.6:c.3152G>A	ENSP00000384468.2:p.Ser1051Asn
ENST00000439117.6:c.*2451G>A	ENSP00000406980.2:n.*2451G>A
ENST00000439673.6:c.3044G>A	ENSP00000399232.2:p.Ser1015Asn
ENST00000471143.5:c.510G>A
ENST00000483020.5:c.524G>A	ENSP00000460310.1:n.524G>A
ENST00000497886.5:n.1111G>A
ENST00000561695.1:n.509G>A
ENST00000568366.5:n.641G>A
ENST00000568454.5:c.3185G>A	ENSP00000454487.1:p.Ser1062Asn
NM_000548.3:c.3284G>A , LRG_487t1:c.3284G>A	NP_000539.2:p.Ser1095Asn
NM_001077183.1:c.3152G>A	NP_001070651.1:p.Ser1051Asn
NM_001114382.1:c.3284G>A	NP_001107854.1:p.Ser1095Asn
XM_005255529.3:c.3155G>A	XP_005255586.2:p.Ser1052Asn
XM_005255531.3:c.3155G>A	XP_005255588.2:p.Ser1052Asn
XM_011522636.1:c.3284G>A	XP_011520938.1:p.Ser1095Asn
XM_011522637.1:c.3281G>A	XP_011520939.1:p.Ser1094Asn
XM_011522638.1:c.3173G>A	XP_011520940.1:p.Ser1058Asn
XM_011522639.1:c.3155G>A	XP_011520941.1:p.Ser1052Asn
XM_011522640.1:c.3152G>A	XP_011520942.1:p.Ser1051Asn
XM_011522641.1:c.3044G>A	XP_011520943.1:p.Ser1015Asn
NM_000548.4:c.3284G>A	NP_000539.2:p.Ser1095Asn
NM_001077183.2:c.3152G>A	NP_001070651.1:p.Ser1051Asn
NM_001114382.2:c.3284G>A	NP_001107854.1:p.Ser1095Asn
NM_001318827.1:c.3044G>A	NP_001305756.1:p.Ser1015Asn
NM_001318829.1:c.3008G>A	NP_001305758.1:p.Ser1003Asn
NM_001318831.1:c.2552G>A	NP_001305760.1:p.Ser851Asn
NM_001318832.1:c.3185G>A	NP_001305761.1:p.Ser1062Asn
NM_001363528.1:c.3155G>A	NP_001350457.1:p.Ser1052Asn
NM_021055.2:c.3155G>A	NP_066399.2:p.Ser1052Asn
XM_005255531.4:c.3155G>A	XP_005255588.2:p.Ser1052Asn
XM_011522636.2:c.3284G>A	XP_011520938.1:p.Ser1095Asn
XM_011522637.2:c.3281G>A	XP_011520939.1:p.Ser1094Asn
XM_011522638.2:c.3446G>A	XP_011520940.2:p.Ser1149Asn
XM_011522639.2:c.3155G>A	XP_011520941.1:p.Ser1052Asn
XM_011522640.2:c.3152G>A	XP_011520942.1:p.Ser1051Asn
XM_017023615.1:c.3281G>A	XP_016879104.1:p.Ser1094Asn
XM_017023616.1:c.3152G>A	XP_016879105.1:p.Ser1051Asn
XM_017023617.1:c.3317G>A	XP_016879106.1:p.Ser1106Asn
XM_017023618.1:c.1940G>A	XP_016879107.1:p.Ser647Asn
XM_024450413.1:c.3152G>A	XP_024306181.1:p.Ser1051Asn
NM_000548.5:c.3284G>A MANE Select	NP_000539.2:p.Ser1095Asn
NM_001370404.1:c.3152G>A	NP_001357333.1:p.Ser1051Asn
NM_001370405.1:c.3155G>A	NP_001357334.1:p.Ser1052Asn
NM_001077183.3:c.3152G>A	NP_001070651.1:p.Ser1051Asn
NM_001114382.3:c.3284G>A	NP_001107854.1:p.Ser1095Asn
NM_001318827.2:c.3044G>A	NP_001305756.1:p.Ser1015Asn
NM_001318829.2:c.3008G>A	NP_001305758.1:p.Ser1003Asn
NM_001318831.2:c.2552G>A	NP_001305760.1:p.Ser851Asn
NM_001318832.2:c.3185G>A	NP_001305761.1:p.Ser1062Asn
NM_001363528.2:c.3155G>A	NP_001350457.1:p.Ser1052Asn
NM_021055.3:c.3155G>A	NP_066399.2:p.Ser1052Asn