Canonical Allele Identifier: CA021270

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49333
• ClinVar RCV Id: RCV000042593 ; RCV001042053
• dbSNP Id: rs45485092
• MyVariant Identifiers: chr16:g.2136801C>T (hg19) ; chr16:g.2086800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086800C>T , CM000678.2:g.2086800C>T	GRCh38
NC_000016.9:g.2136801C>T , CM000678.1:g.2136801C>T	GRCh37
NC_000016.8:g.2076802C>T	NCBI36
NG_005895.1:g.42495C>T , LRG_487:g.42495C>T
NG_008617.1:g.56421G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3267C>T	ENSP00000455997.2:n.*3267C>T
ENST00000642206.2:c.4765C>T	ENSP00000495146.2:p.His1589Tyr
ENST00000642365.2:c.4915C>T	ENSP00000495459.2:p.His1639Tyr
ENST00000644417.2:c.*5431C>T	ENSP00000493912.2:n.*5431C>T
ENST00000646464.2:c.*7667C>T	ENSP00000496610.2:n.*7667C>T
ENST00000219476.9:c.4918C>T MANE Select	ENSP00000219476.3:p.His1640Tyr
ENST00000350773.9:c.4849C>T	ENSP00000344383.4:p.His1617Tyr
ENST00000401874.7:c.4717C>T	ENSP00000384468.2:p.His1573Tyr
ENST00000568454.6:c.4750C>T	ENSP00000454487.1:p.His1584Tyr
ENST00000569110.2:c.1141C>T
ENST00000569930.2:n.2800C>T
ENST00000642365.1:c.3572C>T
ENST00000642561.1:c.4789C>T	ENSP00000495099.1:p.His1597Tyr
ENST00000642728.1:n.1100C>T
ENST00000642791.1:n.515C>T
ENST00000642797.1:c.4720C>T	ENSP00000493846.1:p.His1574Tyr
ENST00000642936.1:c.4786C>T	ENSP00000494514.1:p.His1596Tyr
ENST00000643088.1:c.4711C>T	ENSP00000494747.1:p.His1571Tyr
ENST00000643177.1:n.932C>T
ENST00000643426.1:n.2566C>T
ENST00000643946.1:c.4843C>T	ENSP00000495927.1:p.His1615Tyr
ENST00000644043.1:c.4789C>T	ENSP00000496262.1:p.His1597Tyr
ENST00000644278.1:n.400C>T
ENST00000644329.1:c.4717C>T	ENSP00000496611.1:p.His1573Tyr
ENST00000644335.1:c.4714C>T	ENSP00000496317.1:p.His1572Tyr
ENST00000644399.1:c.4839C>T
ENST00000645024.1:n.3002C>T
ENST00000646388.1:c.4912C>T	ENSP00000495921.1:p.His1638Tyr
ENST00000646557.1:n.79C>T
ENST00000646634.1:n.3733C>T
ENST00000646674.1:n.2170C>T
ENST00000647042.1:n.2141C>T
ENST00000647180.1:n.2031C>T
ENST00000219476.7:c.4918C>T	ENSP00000219476.3:p.His1640Tyr
ENST00000350773.8:c.4849C>T	ENSP00000344383.4:p.His1617Tyr
ENST00000382538.10:c.4573C>T	ENSP00000371978.6:p.His1525Tyr
ENST00000401874.6:c.4717C>T	ENSP00000384468.2:p.His1573Tyr
ENST00000439117.6:c.*4085C>T	ENSP00000406980.2:n.*4085C>T
ENST00000439673.6:c.4609C>T	ENSP00000399232.2:p.His1537Tyr
ENST00000497886.5:n.2641C>T
ENST00000568454.5:c.4750C>T	ENSP00000454487.1:p.His1584Tyr
ENST00000569110.1:c.1100C>T
ENST00000569930.1:n.2033C>T
NM_000548.3:c.4918C>T , LRG_487t1:c.4918C>T	NP_000539.2:p.His1640Tyr
NM_001077183.1:c.4717C>T	NP_001070651.1:p.His1573Tyr
NM_001114382.1:c.4849C>T	NP_001107854.1:p.His1617Tyr
XM_005255529.3:c.4789C>T	XP_005255586.2:p.His1597Tyr
XM_005255531.3:c.4720C>T	XP_005255588.2:p.His1574Tyr
XM_011522636.1:c.4972C>T	XP_011520938.1:p.His1658Tyr
XM_011522637.1:c.4969C>T	XP_011520939.1:p.His1657Tyr
XM_011522638.1:c.4861C>T	XP_011520940.1:p.His1621Tyr
XM_011522639.1:c.4843C>T	XP_011520941.1:p.His1615Tyr
XM_011522640.1:c.4840C>T	XP_011520942.1:p.His1614Tyr
XM_011522641.1:c.4609C>T	XP_011520943.1:p.His1537Tyr
NM_000548.4:c.4918C>T	NP_000539.2:p.His1640Tyr
NM_001077183.2:c.4717C>T	NP_001070651.1:p.His1573Tyr
NM_001114382.2:c.4849C>T	NP_001107854.1:p.His1617Tyr
NM_001318827.1:c.4609C>T	NP_001305756.1:p.His1537Tyr
NM_001318829.1:c.4573C>T	NP_001305758.1:p.His1525Tyr
NM_001318831.1:c.4186C>T	NP_001305760.1:p.His1396Tyr
NM_001318832.1:c.4750C>T	NP_001305761.1:p.His1584Tyr
NM_001363528.1:c.4720C>T	NP_001350457.1:p.His1574Tyr
NM_021055.2:c.4789C>T	NP_066399.2:p.His1597Tyr
XM_005255531.4:c.4720C>T	XP_005255588.2:p.His1574Tyr
XM_011522636.2:c.4972C>T	XP_011520938.1:p.His1658Tyr
XM_011522637.2:c.4969C>T	XP_011520939.1:p.His1657Tyr
XM_011522638.2:c.5134C>T	XP_011520940.2:p.His1712Tyr
XM_011522639.2:c.4843C>T	XP_011520941.1:p.His1615Tyr
XM_011522640.2:c.4840C>T	XP_011520942.1:p.His1614Tyr
XM_017023615.1:c.4915C>T	XP_016879104.1:p.His1639Tyr
XM_017023616.1:c.4786C>T	XP_016879105.1:p.His1596Tyr
XM_017023617.1:c.4882C>T	XP_016879106.1:p.His1628Tyr
XM_017023618.1:c.3628C>T	XP_016879107.1:p.His1210Tyr
XM_024450413.1:c.4717C>T	XP_024306181.1:p.His1573Tyr
NM_000548.5:c.4918C>T MANE Select	NP_000539.2:p.His1640Tyr
NM_001370404.1:c.4786C>T	NP_001357333.1:p.His1596Tyr
NM_001370405.1:c.4789C>T	NP_001357334.1:p.His1597Tyr
NM_001077183.3:c.4717C>T	NP_001070651.1:p.His1573Tyr
NM_001114382.3:c.4849C>T	NP_001107854.1:p.His1617Tyr
NM_001318827.2:c.4609C>T	NP_001305756.1:p.His1537Tyr
NM_001318829.2:c.4573C>T	NP_001305758.1:p.His1525Tyr
NM_001318831.2:c.4186C>T	NP_001305760.1:p.His1396Tyr
NM_001318832.2:c.4750C>T	NP_001305761.1:p.His1584Tyr
NM_001363528.2:c.4720C>T	NP_001350457.1:p.His1574Tyr
NM_021055.3:c.4789C>T	NP_066399.2:p.His1597Tyr