Canonical Allele Identifier: CA620379568

Gene: TSC2

Linked Data

• dbSNP Id: rs1175766348
• gnomAD v2: 16-2135473-GTGC-G
• gnomAD v3: 16-2085472-GTGC-G
• gnomAD v4: 16-2085472-GTGC-G
• MyVariant Identifiers: chr16:g.2135474_2135476del (hg19) ; chr16:g.2085473_2085475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085477_2085479del , CM000678.2:g.2085477_2085479del	GRCh38
NC_000016.9:g.2135478_2135480del , CM000678.1:g.2135478_2135480del	GRCh37
NC_000016.8:g.2075479_2075481del	NCBI36
NG_005895.1:g.41172_41174del , LRG_487:g.41172_41174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3011+155_*3011+157del	ENSP00000455997.2:n.*3011+155_*3011+157del
ENST00000642206.2:c.4509+155_4509+157del	ENSP00000495146.2:n.4509+155_4509+157del
ENST00000642365.2:c.4659+155_4659+157del	ENSP00000495459.2:n.4659+155_4659+157del
ENST00000644417.2:c.*5077_*5079del	ENSP00000493912.2:n.*5077_*5079del
ENST00000646464.2:c.*7411+155_*7411+157del	ENSP00000496610.2:n.*7411+155_*7411+157del
ENST00000219476.9:c.4662+155_4662+157del MANE Select	ENSP00000219476.3:n.4662+155_4662+157del
ENST00000350773.9:c.4593+155_4593+157del	ENSP00000344383.4:n.4593+155_4593+157del
ENST00000401874.7:c.4461+155_4461+157del	ENSP00000384468.2:n.4461+155_4461+157del
ENST00000568454.6:c.4494+155_4494+157del	ENSP00000454487.1:n.4494+155_4494+157del
ENST00000569110.2:c.885+155_885+157del
ENST00000569930.2:n.2544+155_2544+157del
ENST00000642365.1:c.3316+155_3316+157del
ENST00000642561.1:c.4533+155_4533+157del	ENSP00000495099.1:n.4533+155_4533+157del
ENST00000642728.1:n.844+155_844+157del
ENST00000642791.1:n.259+155_259+157del
ENST00000642797.1:c.4464+155_4464+157del	ENSP00000493846.1:n.4464+155_4464+157del
ENST00000642936.1:c.4530+155_4530+157del	ENSP00000494514.1:n.4530+155_4530+157del
ENST00000643088.1:c.4455+155_4455+157del	ENSP00000494747.1:n.4455+155_4455+157del
ENST00000643177.1:n.676+155_676+157del
ENST00000643426.1:n.2310+155_2310+157del
ENST00000643946.1:c.4587+155_4587+157del	ENSP00000495927.1:n.4587+155_4587+157del
ENST00000644043.1:c.4533+155_4533+157del	ENSP00000496262.1:n.4533+155_4533+157del
ENST00000644278.1:n.144+155_144+157del
ENST00000644329.1:c.4461+155_4461+157del	ENSP00000496611.1:n.4461+155_4461+157del
ENST00000644335.1:c.4458+155_4458+157del	ENSP00000496317.1:n.4458+155_4458+157del
ENST00000644399.1:c.4583+155_4583+157del
ENST00000645024.1:n.2746+155_2746+157del
ENST00000646388.1:c.4656+155_4656+157del	ENSP00000495921.1:n.4656+155_4656+157del
ENST00000646634.1:n.3477+155_3477+157del
ENST00000646674.1:n.1914+155_1914+157del
ENST00000647042.1:n.1885+155_1885+157del
ENST00000647180.1:n.1775+155_1775+157del
ENST00000219476.7:c.4662+155_4662+157del	ENSP00000219476.3:n.4662+155_4662+157del
ENST00000350773.8:c.4593+155_4593+157del	ENSP00000344383.4:n.4593+155_4593+157del
ENST00000382538.10:c.4317+155_4317+157del	ENSP00000371978.6:n.4317+155_4317+157del
ENST00000401874.6:c.4461+155_4461+157del	ENSP00000384468.2:n.4461+155_4461+157del
ENST00000439117.6:c.*3829+155_*3829+157del	ENSP00000406980.2:n.*3829+155_*3829+157del
ENST00000439673.6:c.4353+155_4353+157del	ENSP00000399232.2:n.4353+155_4353+157del
ENST00000497886.5:n.2420+155_2420+157del
ENST00000568454.5:c.4494+155_4494+157del	ENSP00000454487.1:n.4494+155_4494+157del
ENST00000569110.1:c.844+155_844+157del
ENST00000569930.1:n.1777+155_1777+157del
NM_000548.3:c.4662+155_4662+157del , LRG_487t1:c.4662+155_4662+157del	NP_000539.2:n.4662+155_4662+157del
NM_001077183.1:c.4461+155_4461+157del	NP_001070651.1:n.4461+155_4461+157del
NM_001114382.1:c.4593+155_4593+157del	NP_001107854.1:n.4593+155_4593+157del
XM_005255529.3:c.4533+155_4533+157del	XP_005255586.2:n.4533+155_4533+157del
XM_005255531.3:c.4464+155_4464+157del	XP_005255588.2:n.4464+155_4464+157del
XM_011522636.1:c.4716+155_4716+157del	XP_011520938.1:n.4716+155_4716+157del
XM_011522637.1:c.4713+155_4713+157del	XP_011520939.1:n.4713+155_4713+157del
XM_011522638.1:c.4605+155_4605+157del	XP_011520940.1:n.4605+155_4605+157del
XM_011522639.1:c.4587+155_4587+157del	XP_011520941.1:n.4587+155_4587+157del
XM_011522640.1:c.4584+155_4584+157del	XP_011520942.1:n.4584+155_4584+157del
XM_011522641.1:c.4353+155_4353+157del	XP_011520943.1:n.4353+155_4353+157del
NM_000548.4:c.4662+155_4662+157del	NP_000539.2:n.4662+155_4662+157del
NM_001077183.2:c.4461+155_4461+157del	NP_001070651.1:n.4461+155_4461+157del
NM_001114382.2:c.4593+155_4593+157del	NP_001107854.1:n.4593+155_4593+157del
NM_001318827.1:c.4353+155_4353+157del	NP_001305756.1:n.4353+155_4353+157del
NM_001318829.1:c.4317+155_4317+157del	NP_001305758.1:n.4317+155_4317+157del
NM_001318831.1:c.3930+155_3930+157del	NP_001305760.1:n.3930+155_3930+157del
NM_001318832.1:c.4494+155_4494+157del	NP_001305761.1:n.4494+155_4494+157del
NM_001363528.1:c.4464+155_4464+157del	NP_001350457.1:n.4464+155_4464+157del
NM_021055.2:c.4533+155_4533+157del	NP_066399.2:n.4533+155_4533+157del
XM_005255531.4:c.4464+155_4464+157del	XP_005255588.2:n.4464+155_4464+157del
XM_011522636.2:c.4716+155_4716+157del	XP_011520938.1:n.4716+155_4716+157del
XM_011522637.2:c.4713+155_4713+157del	XP_011520939.1:n.4713+155_4713+157del
XM_011522638.2:c.4878+155_4878+157del	XP_011520940.2:n.4878+155_4878+157del
XM_011522639.2:c.4587+155_4587+157del	XP_011520941.1:n.4587+155_4587+157del
XM_011522640.2:c.4584+155_4584+157del	XP_011520942.1:n.4584+155_4584+157del
XM_017023615.1:c.4659+155_4659+157del	XP_016879104.1:n.4659+155_4659+157del
XM_017023616.1:c.4530+155_4530+157del	XP_016879105.1:n.4530+155_4530+157del
XM_017023617.1:c.4626+155_4626+157del	XP_016879106.1:n.4626+155_4626+157del
XM_017023618.1:c.3372+155_3372+157del	XP_016879107.1:n.3372+155_3372+157del
XM_024450413.1:c.4461+155_4461+157del	XP_024306181.1:n.4461+155_4461+157del
NM_000548.5:c.4662+155_4662+157del MANE Select	NP_000539.2:n.4662+155_4662+157del
NM_001370404.1:c.4530+155_4530+157del	NP_001357333.1:n.4530+155_4530+157del
NM_001370405.1:c.4533+155_4533+157del	NP_001357334.1:n.4533+155_4533+157del
NM_001077183.3:c.4461+155_4461+157del	NP_001070651.1:n.4461+155_4461+157del
NM_001114382.3:c.4593+155_4593+157del	NP_001107854.1:n.4593+155_4593+157del
NM_001318827.2:c.4353+155_4353+157del	NP_001305756.1:n.4353+155_4353+157del
NM_001318829.2:c.4317+155_4317+157del	NP_001305758.1:n.4317+155_4317+157del
NM_001318831.2:c.3930+155_3930+157del	NP_001305760.1:n.3930+155_3930+157del
NM_001318832.2:c.4494+155_4494+157del	NP_001305761.1:n.4494+155_4494+157del
NM_001363528.2:c.4464+155_4464+157del	NP_001350457.1:n.4464+155_4464+157del
NM_021055.3:c.4533+155_4533+157del	NP_066399.2:n.4533+155_4533+157del