Canonical Allele Identifier: CA021563

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49852
• ClinVar RCV Id: RCV000043118 ; RCV000795199
• dbSNP Id: rs45467993
• COSMIC: COSM5487040 ; COSM5487041
• MyVariant Identifiers: chr16:g.2137908C>G (hg19) ; chr16:g.2087907C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2087907C>G , CM000678.2:g.2087907C>G	GRCh38
NC_000016.9:g.2137908C>G , CM000678.1:g.2137908C>G	GRCh37
NC_000016.8:g.2077909C>G	NCBI36
NG_005895.1:g.43602C>G , LRG_487:g.43602C>G
NG_008617.1:g.55314G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3383C>G	ENSP00000455997.2:n.*3383C>G
ENST00000642206.2:c.4881C>G	ENSP00000495146.2:p.Tyr1627Ter
ENST00000642365.2:c.5031C>G	ENSP00000495459.2:p.Tyr1677Ter
ENST00000644417.2:c.*5547C>G	ENSP00000493912.2:n.*5547C>G
ENST00000646464.2:c.*7783C>G	ENSP00000496610.2:n.*7783C>G
ENST00000219476.9:c.5034C>G MANE Select	ENSP00000219476.3:p.Tyr1678Ter
ENST00000350773.9:c.4965C>G	ENSP00000344383.4:p.Tyr1655Ter
ENST00000401874.7:c.4833C>G	ENSP00000384468.2:p.Tyr1611Ter
ENST00000568454.6:c.4866C>G	ENSP00000454487.1:p.Tyr1622Ter
ENST00000569110.2:c.1257C>G
ENST00000569930.2:n.2916C>G
ENST00000642365.1:c.3688C>G
ENST00000642561.1:c.4905C>G	ENSP00000495099.1:p.Tyr1635Ter
ENST00000642791.1:n.631C>G
ENST00000642797.1:c.4836C>G	ENSP00000493846.1:p.Tyr1612Ter
ENST00000642936.1:c.4902C>G	ENSP00000494514.1:p.Tyr1634Ter
ENST00000643088.1:c.4827C>G	ENSP00000494747.1:p.Tyr1609Ter
ENST00000643177.1:n.1048C>G
ENST00000643426.1:n.2682C>G
ENST00000643946.1:c.4959C>G	ENSP00000495927.1:p.Tyr1653Ter
ENST00000644043.1:c.4905C>G	ENSP00000496262.1:p.Tyr1635Ter
ENST00000644278.1:n.516C>G
ENST00000644329.1:c.4833C>G	ENSP00000496611.1:p.Tyr1611Ter
ENST00000644335.1:c.4830C>G	ENSP00000496317.1:p.Tyr1610Ter
ENST00000644399.1:c.4955C>G
ENST00000645024.1:n.3118C>G
ENST00000646388.1:c.5028C>G	ENSP00000495921.1:p.Tyr1676Ter
ENST00000646634.1:n.3849C>G
ENST00000646674.1:n.2286C>G
ENST00000647042.1:n.2257C>G
ENST00000647180.1:n.2147C>G
ENST00000219476.7:c.5034C>G	ENSP00000219476.3:p.Tyr1678Ter
ENST00000350773.8:c.4965C>G	ENSP00000344383.4:p.Tyr1655Ter
ENST00000382538.10:c.4689C>G	ENSP00000371978.6:p.Tyr1563Ter
ENST00000401874.6:c.4833C>G	ENSP00000384468.2:p.Tyr1611Ter
ENST00000439117.6:c.*4201C>G	ENSP00000406980.2:n.*4201C>G
ENST00000439673.6:c.4725C>G	ENSP00000399232.2:p.Tyr1575Ter
ENST00000497886.5:n.2757C>G
ENST00000568454.5:c.4866C>G	ENSP00000454487.1:p.Tyr1622Ter
ENST00000569110.1:c.1216C>G
ENST00000569930.1:n.2149C>G
NM_000548.3:c.5034C>G , LRG_487t1:c.5034C>G	NP_000539.2:p.Tyr1678Ter
NM_001077183.1:c.4833C>G	NP_001070651.1:p.Tyr1611Ter
NM_001114382.1:c.4965C>G	NP_001107854.1:p.Tyr1655Ter
XM_005255529.3:c.4905C>G	XP_005255586.2:p.Tyr1635Ter
XM_005255531.3:c.4836C>G	XP_005255588.2:p.Tyr1612Ter
XM_011522636.1:c.5088C>G	XP_011520938.1:p.Tyr1696Ter
XM_011522637.1:c.5085C>G	XP_011520939.1:p.Tyr1695Ter
XM_011522638.1:c.4977C>G	XP_011520940.1:p.Tyr1659Ter
XM_011522639.1:c.4959C>G	XP_011520941.1:p.Tyr1653Ter
XM_011522640.1:c.4956C>G	XP_011520942.1:p.Tyr1652Ter
XM_011522641.1:c.4725C>G	XP_011520943.1:p.Tyr1575Ter
NM_000548.4:c.5034C>G	NP_000539.2:p.Tyr1678Ter
NM_001077183.2:c.4833C>G	NP_001070651.1:p.Tyr1611Ter
NM_001114382.2:c.4965C>G	NP_001107854.1:p.Tyr1655Ter
NM_001318827.1:c.4725C>G	NP_001305756.1:p.Tyr1575Ter
NM_001318829.1:c.4689C>G	NP_001305758.1:p.Tyr1563Ter
NM_001318831.1:c.4302C>G	NP_001305760.1:p.Tyr1434Ter
NM_001318832.1:c.4866C>G	NP_001305761.1:p.Tyr1622Ter
NM_001363528.1:c.4836C>G	NP_001350457.1:p.Tyr1612Ter
NM_021055.2:c.4905C>G	NP_066399.2:p.Tyr1635Ter
XM_005255531.4:c.4836C>G	XP_005255588.2:p.Tyr1612Ter
XM_011522636.2:c.5088C>G	XP_011520938.1:p.Tyr1696Ter
XM_011522637.2:c.5085C>G	XP_011520939.1:p.Tyr1695Ter
XM_011522638.2:c.5250C>G	XP_011520940.2:p.Tyr1750Ter
XM_011522639.2:c.4959C>G	XP_011520941.1:p.Tyr1653Ter
XM_011522640.2:c.4956C>G	XP_011520942.1:p.Tyr1652Ter
XM_017023615.1:c.5031C>G	XP_016879104.1:p.Tyr1677Ter
XM_017023616.1:c.4902C>G	XP_016879105.1:p.Tyr1634Ter
XM_017023617.1:c.4998C>G	XP_016879106.1:p.Tyr1666Ter
XM_017023618.1:c.3744C>G	XP_016879107.1:p.Tyr1248Ter
XM_024450413.1:c.4833C>G	XP_024306181.1:p.Tyr1611Ter
NM_000548.5:c.5034C>G MANE Select	NP_000539.2:p.Tyr1678Ter
NM_001370404.1:c.4902C>G	NP_001357333.1:p.Tyr1634Ter
NM_001370405.1:c.4905C>G	NP_001357334.1:p.Tyr1635Ter
NM_001077183.3:c.4833C>G	NP_001070651.1:p.Tyr1611Ter
NM_001114382.3:c.4965C>G	NP_001107854.1:p.Tyr1655Ter
NM_001318827.2:c.4725C>G	NP_001305756.1:p.Tyr1575Ter
NM_001318829.2:c.4689C>G	NP_001305758.1:p.Tyr1563Ter
NM_001318831.2:c.4302C>G	NP_001305760.1:p.Tyr1434Ter
NM_001318832.2:c.4866C>G	NP_001305761.1:p.Tyr1622Ter
NM_001363528.2:c.4836C>G	NP_001350457.1:p.Tyr1612Ter
NM_021055.3:c.4905C>G	NP_066399.2:p.Tyr1635Ter