Canonical Allele Identifier: CA019071

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49828
• ClinVar RCV Id: RCV000043094 ; RCV000414024
• dbSNP Id: rs137854074
• gnomAD v4: 16-2079667-C-A
• MyVariant Identifiers: chr16:g.2129668C>A (hg19) ; chr16:g.2079667C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079667C>A , CM000678.2:g.2079667C>A	GRCh38
NC_000016.9:g.2129668C>A , CM000678.1:g.2129668C>A	GRCh37
NC_000016.8:g.2069669C>A	NCBI36
NG_005895.1:g.35362C>A , LRG_487:g.35362C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1813C>A	ENSP00000455997.2:n.*1813C>A
ENST00000642206.2:c.3311C>A	ENSP00000495146.2:p.Ser1104Ter
ENST00000642365.2:c.3392C>A	ENSP00000495459.2:p.Ser1131Ter
ENST00000644417.2:c.*3844C>A	ENSP00000493912.2:n.*3844C>A
ENST00000646464.2:c.*4317C>A	ENSP00000496610.2:n.*4317C>A
ENST00000219476.9:c.3395C>A MANE Select	ENSP00000219476.3:p.Ser1132Ter
ENST00000350773.9:c.3395C>A	ENSP00000344383.4:p.Ser1132Ter
ENST00000401874.7:c.3263C>A	ENSP00000384468.2:p.Ser1088Ter
ENST00000568454.6:c.3296C>A	ENSP00000454487.1:p.Ser1099Ter
ENST00000642365.1:c.2049C>A
ENST00000642561.1:c.3266C>A	ENSP00000495099.1:p.Ser1089Ter
ENST00000642797.1:c.3266C>A	ENSP00000493846.1:p.Ser1089Ter
ENST00000642936.1:c.3263C>A	ENSP00000494514.1:p.Ser1088Ter
ENST00000643088.1:c.3263C>A	ENSP00000494747.1:p.Ser1088Ter
ENST00000643946.1:c.3395C>A	ENSP00000495927.1:p.Ser1132Ter
ENST00000644043.1:c.3266C>A	ENSP00000496262.1:p.Ser1089Ter
ENST00000644329.1:c.3263C>A	ENSP00000496611.1:p.Ser1088Ter
ENST00000644335.1:c.3266C>A	ENSP00000496317.1:p.Ser1089Ter
ENST00000644399.1:c.3385C>A
ENST00000644722.1:n.541C>A
ENST00000645024.1:n.1548C>A
ENST00000646388.1:c.3395C>A	ENSP00000495921.1:p.Ser1132Ter
ENST00000646634.1:n.2279C>A
ENST00000646674.1:n.10C>A
ENST00000647042.1:n.687C>A
ENST00000219476.7:c.3395C>A	ENSP00000219476.3:p.Ser1132Ter
ENST00000350773.8:c.3395C>A	ENSP00000344383.4:p.Ser1132Ter
ENST00000382538.10:c.3119C>A	ENSP00000371978.6:p.Ser1040Ter
ENST00000401874.6:c.3263C>A	ENSP00000384468.2:p.Ser1088Ter
ENST00000439117.6:c.*2562C>A	ENSP00000406980.2:n.*2562C>A
ENST00000439673.6:c.3155C>A	ENSP00000399232.2:p.Ser1052Ter
ENST00000497886.5:n.1222C>A
ENST00000568366.5:n.752C>A
ENST00000568454.5:c.3296C>A	ENSP00000454487.1:p.Ser1099Ter
NM_000548.3:c.3395C>A , LRG_487t1:c.3395C>A	NP_000539.2:p.Ser1132Ter
NM_001077183.1:c.3263C>A	NP_001070651.1:p.Ser1088Ter
NM_001114382.1:c.3395C>A	NP_001107854.1:p.Ser1132Ter
XM_005255529.3:c.3266C>A	XP_005255586.2:p.Ser1089Ter
XM_005255531.3:c.3266C>A	XP_005255588.2:p.Ser1089Ter
XM_011522636.1:c.3395C>A	XP_011520938.1:p.Ser1132Ter
XM_011522637.1:c.3392C>A	XP_011520939.1:p.Ser1131Ter
XM_011522638.1:c.3284C>A	XP_011520940.1:p.Ser1095Ter
XM_011522639.1:c.3266C>A	XP_011520941.1:p.Ser1089Ter
XM_011522640.1:c.3263C>A	XP_011520942.1:p.Ser1088Ter
XM_011522641.1:c.3155C>A	XP_011520943.1:p.Ser1052Ter
NM_000548.4:c.3395C>A	NP_000539.2:p.Ser1132Ter
NM_001077183.2:c.3263C>A	NP_001070651.1:p.Ser1088Ter
NM_001114382.2:c.3395C>A	NP_001107854.1:p.Ser1132Ter
NM_001318827.1:c.3155C>A	NP_001305756.1:p.Ser1052Ter
NM_001318829.1:c.3119C>A	NP_001305758.1:p.Ser1040Ter
NM_001318831.1:c.2663C>A	NP_001305760.1:p.Ser888Ter
NM_001318832.1:c.3296C>A	NP_001305761.1:p.Ser1099Ter
NM_001363528.1:c.3266C>A	NP_001350457.1:p.Ser1089Ter
NM_021055.2:c.3266C>A	NP_066399.2:p.Ser1089Ter
XM_005255531.4:c.3266C>A	XP_005255588.2:p.Ser1089Ter
XM_011522636.2:c.3395C>A	XP_011520938.1:p.Ser1132Ter
XM_011522637.2:c.3392C>A	XP_011520939.1:p.Ser1131Ter
XM_011522638.2:c.3557C>A	XP_011520940.2:p.Ser1186Ter
XM_011522639.2:c.3266C>A	XP_011520941.1:p.Ser1089Ter
XM_011522640.2:c.3263C>A	XP_011520942.1:p.Ser1088Ter
XM_017023615.1:c.3392C>A	XP_016879104.1:p.Ser1131Ter
XM_017023616.1:c.3263C>A	XP_016879105.1:p.Ser1088Ter
XM_017023617.1:c.3428C>A	XP_016879106.1:p.Ser1143Ter
XM_017023618.1:c.2051C>A	XP_016879107.1:p.Ser684Ter
XM_024450413.1:c.3263C>A	XP_024306181.1:p.Ser1088Ter
NM_000548.5:c.3395C>A MANE Select	NP_000539.2:p.Ser1132Ter
NM_001370404.1:c.3263C>A	NP_001357333.1:p.Ser1088Ter
NM_001370405.1:c.3266C>A	NP_001357334.1:p.Ser1089Ter
NM_001077183.3:c.3263C>A	NP_001070651.1:p.Ser1088Ter
NM_001114382.3:c.3395C>A	NP_001107854.1:p.Ser1132Ter
NM_001318827.2:c.3155C>A	NP_001305756.1:p.Ser1052Ter
NM_001318829.2:c.3119C>A	NP_001305758.1:p.Ser1040Ter
NM_001318831.2:c.2663C>A	NP_001305760.1:p.Ser888Ter
NM_001318832.2:c.3296C>A	NP_001305761.1:p.Ser1099Ter
NM_001363528.2:c.3266C>A	NP_001350457.1:p.Ser1089Ter
NM_021055.3:c.3266C>A	NP_066399.2:p.Ser1089Ter