Canonical Allele Identifier: CA16615034

Gene: TSC2

Linked Data

• ClinVar Variation Id: 405997
• ClinVar RCV Id: RCV000470575 ; RCV002311771 ; RCV003463865
• dbSNP Id: rs1060500930
• gnomAD v4: 16-2085272-C-T
• MyVariant Identifiers: chr16:g.2135273C>T (hg19) ; chr16:g.2085272C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085272C>T , CM000678.2:g.2085272C>T	GRCh38
NC_000016.9:g.2135273C>T , CM000678.1:g.2135273C>T	GRCh37
NC_000016.8:g.2075274C>T	NCBI36
NG_005895.1:g.40967C>T , LRG_487:g.40967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2961C>T	ENSP00000455997.2:n.*2961C>T
ENST00000642206.2:c.4459C>T	ENSP00000495146.2:p.Pro1487Ser
ENST00000642365.2:c.4609C>T	ENSP00000495459.2:p.Pro1537Ser
ENST00000644417.2:c.*4992C>T	ENSP00000493912.2:n.*4992C>T
ENST00000646464.2:c.*7361C>T	ENSP00000496610.2:n.*7361C>T
ENST00000219476.9:c.4612C>T MANE Select	ENSP00000219476.3:p.Pro1538Ser
ENST00000350773.9:c.4543C>T	ENSP00000344383.4:p.Pro1515Ser
ENST00000401874.7:c.4411C>T	ENSP00000384468.2:p.Pro1471Ser
ENST00000568454.6:c.4444C>T	ENSP00000454487.1:p.Pro1482Ser
ENST00000569110.2:c.835C>T
ENST00000569930.2:n.2494C>T
ENST00000642365.1:c.3266C>T
ENST00000642561.1:c.4483C>T	ENSP00000495099.1:p.Pro1495Ser
ENST00000642728.1:n.794C>T
ENST00000642791.1:n.209C>T
ENST00000642797.1:c.4414C>T	ENSP00000493846.1:p.Pro1472Ser
ENST00000642936.1:c.4480C>T	ENSP00000494514.1:p.Pro1494Ser
ENST00000643088.1:c.4405C>T	ENSP00000494747.1:p.Pro1469Ser
ENST00000643177.1:n.626C>T
ENST00000643426.1:n.2260C>T
ENST00000643946.1:c.4537C>T	ENSP00000495927.1:p.Pro1513Ser
ENST00000644043.1:c.4483C>T	ENSP00000496262.1:p.Pro1495Ser
ENST00000644278.1:n.94C>T
ENST00000644329.1:c.4411C>T	ENSP00000496611.1:p.Pro1471Ser
ENST00000644335.1:c.4408C>T	ENSP00000496317.1:p.Pro1470Ser
ENST00000644399.1:c.4533C>T
ENST00000645024.1:n.2696C>T
ENST00000646388.1:c.4606C>T	ENSP00000495921.1:p.Pro1536Ser
ENST00000646634.1:n.3427C>T
ENST00000646674.1:n.1864C>T
ENST00000647042.1:n.1835C>T
ENST00000647180.1:n.1725C>T
ENST00000219476.7:c.4612C>T	ENSP00000219476.3:p.Pro1538Ser
ENST00000350773.8:c.4543C>T	ENSP00000344383.4:p.Pro1515Ser
ENST00000382538.10:c.4267C>T	ENSP00000371978.6:p.Pro1423Ser
ENST00000401874.6:c.4411C>T	ENSP00000384468.2:p.Pro1471Ser
ENST00000439117.6:c.*3779C>T	ENSP00000406980.2:n.*3779C>T
ENST00000439673.6:c.4303C>T	ENSP00000399232.2:p.Pro1435Ser
ENST00000497886.5:n.2370C>T
ENST00000568454.5:c.4444C>T	ENSP00000454487.1:p.Pro1482Ser
ENST00000569110.1:c.794C>T
ENST00000569930.1:n.1727C>T
NM_000548.3:c.4612C>T , LRG_487t1:c.4612C>T	NP_000539.2:p.Pro1538Ser
NM_001077183.1:c.4411C>T	NP_001070651.1:p.Pro1471Ser
NM_001114382.1:c.4543C>T	NP_001107854.1:p.Pro1515Ser
XM_005255529.3:c.4483C>T	XP_005255586.2:p.Pro1495Ser
XM_005255531.3:c.4414C>T	XP_005255588.2:p.Pro1472Ser
XM_011522636.1:c.4666C>T	XP_011520938.1:p.Pro1556Ser
XM_011522637.1:c.4663C>T	XP_011520939.1:p.Pro1555Ser
XM_011522638.1:c.4555C>T	XP_011520940.1:p.Pro1519Ser
XM_011522639.1:c.4537C>T	XP_011520941.1:p.Pro1513Ser
XM_011522640.1:c.4534C>T	XP_011520942.1:p.Pro1512Ser
XM_011522641.1:c.4303C>T	XP_011520943.1:p.Pro1435Ser
NM_000548.4:c.4612C>T	NP_000539.2:p.Pro1538Ser
NM_001077183.2:c.4411C>T	NP_001070651.1:p.Pro1471Ser
NM_001114382.2:c.4543C>T	NP_001107854.1:p.Pro1515Ser
NM_001318827.1:c.4303C>T	NP_001305756.1:p.Pro1435Ser
NM_001318829.1:c.4267C>T	NP_001305758.1:p.Pro1423Ser
NM_001318831.1:c.3880C>T	NP_001305760.1:p.Pro1294Ser
NM_001318832.1:c.4444C>T	NP_001305761.1:p.Pro1482Ser
NM_001363528.1:c.4414C>T	NP_001350457.1:p.Pro1472Ser
NM_021055.2:c.4483C>T	NP_066399.2:p.Pro1495Ser
XM_005255531.4:c.4414C>T	XP_005255588.2:p.Pro1472Ser
XM_011522636.2:c.4666C>T	XP_011520938.1:p.Pro1556Ser
XM_011522637.2:c.4663C>T	XP_011520939.1:p.Pro1555Ser
XM_011522638.2:c.4828C>T	XP_011520940.2:p.Pro1610Ser
XM_011522639.2:c.4537C>T	XP_011520941.1:p.Pro1513Ser
XM_011522640.2:c.4534C>T	XP_011520942.1:p.Pro1512Ser
XM_017023615.1:c.4609C>T	XP_016879104.1:p.Pro1537Ser
XM_017023616.1:c.4480C>T	XP_016879105.1:p.Pro1494Ser
XM_017023617.1:c.4576C>T	XP_016879106.1:p.Pro1526Ser
XM_017023618.1:c.3322C>T	XP_016879107.1:p.Pro1108Ser
XM_024450413.1:c.4411C>T	XP_024306181.1:p.Pro1471Ser
NM_000548.5:c.4612C>T MANE Select	NP_000539.2:p.Pro1538Ser
NM_001370404.1:c.4480C>T	NP_001357333.1:p.Pro1494Ser
NM_001370405.1:c.4483C>T	NP_001357334.1:p.Pro1495Ser
NM_001077183.3:c.4411C>T	NP_001070651.1:p.Pro1471Ser
NM_001114382.3:c.4543C>T	NP_001107854.1:p.Pro1515Ser
NM_001318827.2:c.4303C>T	NP_001305756.1:p.Pro1435Ser
NM_001318829.2:c.4267C>T	NP_001305758.1:p.Pro1423Ser
NM_001318831.2:c.3880C>T	NP_001305760.1:p.Pro1294Ser
NM_001318832.2:c.4444C>T	NP_001305761.1:p.Pro1482Ser
NM_001363528.2:c.4414C>T	NP_001350457.1:p.Pro1472Ser
NM_021055.3:c.4483C>T	NP_066399.2:p.Pro1495Ser