Canonical Allele Identifier: CA394304973

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1519233
• ClinVar RCV Id: RCV002024455
• dbSNP Id: rs45488595
• MyVariant Identifiers: chr16:g.2135306T>C (hg19) ; chr16:g.2085305T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085305T>C , CM000678.2:g.2085305T>C	GRCh38
NC_000016.9:g.2135306T>C , CM000678.1:g.2135306T>C	GRCh37
NC_000016.8:g.2075307T>C	NCBI36
NG_005895.1:g.41000T>C , LRG_487:g.41000T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2994T>C	ENSP00000455997.2:n.*2994T>C
ENST00000642206.2:c.4492T>C	ENSP00000495146.2:p.Tyr1498His
ENST00000642365.2:c.4642T>C	ENSP00000495459.2:p.Tyr1548His
ENST00000644417.2:c.*5025T>C	ENSP00000493912.2:n.*5025T>C
ENST00000646464.2:c.*7394T>C	ENSP00000496610.2:n.*7394T>C
ENST00000219476.9:c.4645T>C MANE Select	ENSP00000219476.3:p.Tyr1549His
ENST00000350773.9:c.4576T>C	ENSP00000344383.4:p.Tyr1526His
ENST00000401874.7:c.4444T>C	ENSP00000384468.2:p.Tyr1482His
ENST00000568454.6:c.4477T>C	ENSP00000454487.1:p.Tyr1493His
ENST00000569110.2:c.868T>C
ENST00000569930.2:n.2527T>C
ENST00000642365.1:c.3299T>C
ENST00000642561.1:c.4516T>C	ENSP00000495099.1:p.Tyr1506His
ENST00000642728.1:n.827T>C
ENST00000642791.1:n.242T>C
ENST00000642797.1:c.4447T>C	ENSP00000493846.1:p.Tyr1483His
ENST00000642936.1:c.4513T>C	ENSP00000494514.1:p.Tyr1505His
ENST00000643088.1:c.4438T>C	ENSP00000494747.1:p.Tyr1480His
ENST00000643177.1:n.659T>C
ENST00000643426.1:n.2293T>C
ENST00000643946.1:c.4570T>C	ENSP00000495927.1:p.Tyr1524His
ENST00000644043.1:c.4516T>C	ENSP00000496262.1:p.Tyr1506His
ENST00000644278.1:n.127T>C
ENST00000644329.1:c.4444T>C	ENSP00000496611.1:p.Tyr1482His
ENST00000644335.1:c.4441T>C	ENSP00000496317.1:p.Tyr1481His
ENST00000644399.1:c.4566T>C
ENST00000645024.1:n.2729T>C
ENST00000646388.1:c.4639T>C	ENSP00000495921.1:p.Tyr1547His
ENST00000646634.1:n.3460T>C
ENST00000646674.1:n.1897T>C
ENST00000647042.1:n.1868T>C
ENST00000647180.1:n.1758T>C
ENST00000219476.7:c.4645T>C	ENSP00000219476.3:p.Tyr1549His
ENST00000350773.8:c.4576T>C	ENSP00000344383.4:p.Tyr1526His
ENST00000382538.10:c.4300T>C	ENSP00000371978.6:p.Tyr1434His
ENST00000401874.6:c.4444T>C	ENSP00000384468.2:p.Tyr1482His
ENST00000439117.6:c.*3812T>C	ENSP00000406980.2:n.*3812T>C
ENST00000439673.6:c.4336T>C	ENSP00000399232.2:p.Tyr1446His
ENST00000497886.5:n.2403T>C
ENST00000568454.5:c.4477T>C	ENSP00000454487.1:p.Tyr1493His
ENST00000569110.1:c.827T>C
ENST00000569930.1:n.1760T>C
NM_000548.3:c.4645T>C , LRG_487t1:c.4645T>C	NP_000539.2:p.Tyr1549His
NM_001077183.1:c.4444T>C	NP_001070651.1:p.Tyr1482His
NM_001114382.1:c.4576T>C	NP_001107854.1:p.Tyr1526His
XM_005255529.3:c.4516T>C	XP_005255586.2:p.Tyr1506His
XM_005255531.3:c.4447T>C	XP_005255588.2:p.Tyr1483His
XM_011522636.1:c.4699T>C	XP_011520938.1:p.Tyr1567His
XM_011522637.1:c.4696T>C	XP_011520939.1:p.Tyr1566His
XM_011522638.1:c.4588T>C	XP_011520940.1:p.Tyr1530His
XM_011522639.1:c.4570T>C	XP_011520941.1:p.Tyr1524His
XM_011522640.1:c.4567T>C	XP_011520942.1:p.Tyr1523His
XM_011522641.1:c.4336T>C	XP_011520943.1:p.Tyr1446His
NM_000548.4:c.4645T>C	NP_000539.2:p.Tyr1549His
NM_001077183.2:c.4444T>C	NP_001070651.1:p.Tyr1482His
NM_001114382.2:c.4576T>C	NP_001107854.1:p.Tyr1526His
NM_001318827.1:c.4336T>C	NP_001305756.1:p.Tyr1446His
NM_001318829.1:c.4300T>C	NP_001305758.1:p.Tyr1434His
NM_001318831.1:c.3913T>C	NP_001305760.1:p.Tyr1305His
NM_001318832.1:c.4477T>C	NP_001305761.1:p.Tyr1493His
NM_001363528.1:c.4447T>C	NP_001350457.1:p.Tyr1483His
NM_021055.2:c.4516T>C	NP_066399.2:p.Tyr1506His
XM_005255531.4:c.4447T>C	XP_005255588.2:p.Tyr1483His
XM_011522636.2:c.4699T>C	XP_011520938.1:p.Tyr1567His
XM_011522637.2:c.4696T>C	XP_011520939.1:p.Tyr1566His
XM_011522638.2:c.4861T>C	XP_011520940.2:p.Tyr1621His
XM_011522639.2:c.4570T>C	XP_011520941.1:p.Tyr1524His
XM_011522640.2:c.4567T>C	XP_011520942.1:p.Tyr1523His
XM_017023615.1:c.4642T>C	XP_016879104.1:p.Tyr1548His
XM_017023616.1:c.4513T>C	XP_016879105.1:p.Tyr1505His
XM_017023617.1:c.4609T>C	XP_016879106.1:p.Tyr1537His
XM_017023618.1:c.3355T>C	XP_016879107.1:p.Tyr1119His
XM_024450413.1:c.4444T>C	XP_024306181.1:p.Tyr1482His
NM_000548.5:c.4645T>C MANE Select	NP_000539.2:p.Tyr1549His
NM_001370404.1:c.4513T>C	NP_001357333.1:p.Tyr1505His
NM_001370405.1:c.4516T>C	NP_001357334.1:p.Tyr1506His
NM_001077183.3:c.4444T>C	NP_001070651.1:p.Tyr1482His
NM_001114382.3:c.4576T>C	NP_001107854.1:p.Tyr1526His
NM_001318827.2:c.4336T>C	NP_001305756.1:p.Tyr1446His
NM_001318829.2:c.4300T>C	NP_001305758.1:p.Tyr1434His
NM_001318831.2:c.3913T>C	NP_001305760.1:p.Tyr1305His
NM_001318832.2:c.4477T>C	NP_001305761.1:p.Tyr1493His
NM_001363528.2:c.4447T>C	NP_001350457.1:p.Tyr1483His
NM_021055.3:c.4516T>C	NP_066399.2:p.Tyr1506His