Canonical Allele Identifier: CA022018

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49848
• ClinVar RCV Id: RCV000043114 ; RCV003511993
• dbSNP Id: rs45517404
• MyVariant Identifiers: chr16:g.2138227G>T (hg19) ; chr16:g.2088226G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088226G>T , CM000678.2:g.2088226G>T	GRCh38
NC_000016.9:g.2138227G>T , CM000678.1:g.2138227G>T	GRCh37
NC_000016.8:g.2078228G>T	NCBI36
NG_005895.1:g.43921G>T , LRG_487:g.43921G>T
NG_008617.1:g.54995C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3510-1G>T	ENSP00000455997.2:n.*3510-1G>T
ENST00000642206.2:c.5008-1G>T	ENSP00000495146.2:n.5008-1G>T
ENST00000642365.2:c.5158-1G>T	ENSP00000495459.2:n.5158-1G>T
ENST00000644417.2:c.*5674-1G>T	ENSP00000493912.2:n.*5674-1G>T
ENST00000646464.2:c.*7910-1G>T	ENSP00000496610.2:n.*7910-1G>T
ENST00000219476.9:c.5161-1G>T MANE Select	ENSP00000219476.3:n.5161-1G>T
ENST00000350773.9:c.5092-1G>T	ENSP00000344383.4:n.5092-1G>T
ENST00000401874.7:c.4960-1G>T	ENSP00000384468.2:n.4960-1G>T
ENST00000568454.6:c.4993-1G>T	ENSP00000454487.1:n.4993-1G>T
ENST00000569110.2:c.1384-1G>T
ENST00000569930.2:n.3043-1G>T
ENST00000642365.1:c.3815-1G>T
ENST00000642561.1:c.5032-13G>T	ENSP00000495099.1:n.5032-13G>T
ENST00000642791.1:n.758-1G>T
ENST00000642797.1:c.4963-1G>T	ENSP00000493846.1:n.4963-1G>T
ENST00000642936.1:c.5029-1G>T	ENSP00000494514.1:n.5029-1G>T
ENST00000643088.1:c.4954-1G>T	ENSP00000494747.1:n.4954-1G>T
ENST00000643426.1:n.2809-1G>T
ENST00000643946.1:c.5086-1G>T	ENSP00000495927.1:n.5086-1G>T
ENST00000644043.1:c.5032-1G>T	ENSP00000496262.1:n.5032-1G>T
ENST00000644329.1:c.5046G>T	ENSP00000496611.1:p.Gln1682His
ENST00000644335.1:c.4957-1G>T	ENSP00000496317.1:n.4957-1G>T
ENST00000644399.1:c.5082-1G>T
ENST00000645024.1:n.3245-1G>T
ENST00000646388.1:c.5155-1G>T	ENSP00000495921.1:n.5155-1G>T
ENST00000646634.1:n.3976-1G>T
ENST00000646674.1:n.2413-1G>T
ENST00000647042.1:n.2384-1G>T
ENST00000647180.1:n.2274-1G>T
ENST00000219476.7:c.5161-1G>T	ENSP00000219476.3:n.5161-1G>T
ENST00000350773.8:c.5092-1G>T	ENSP00000344383.4:n.5092-1G>T
ENST00000382538.10:c.4816-1G>T	ENSP00000371978.6:n.4816-1G>T
ENST00000401874.6:c.4960-1G>T	ENSP00000384468.2:n.4960-1G>T
ENST00000439117.6:c.*4328-1G>T	ENSP00000406980.2:n.*4328-1G>T
ENST00000439673.6:c.4852-1G>T	ENSP00000399232.2:n.4852-1G>T
ENST00000497886.5:n.2884-1G>T
ENST00000568454.5:c.4993-1G>T	ENSP00000454487.1:n.4993-1G>T
ENST00000569110.1:c.1343-1G>T
ENST00000569930.1:n.2276-1G>T
NM_000548.3:c.5161-1G>T , LRG_487t1:c.5161-1G>T	NP_000539.2:n.5161-1G>T
NM_001077183.1:c.4960-1G>T	NP_001070651.1:n.4960-1G>T
NM_001114382.1:c.5092-1G>T	NP_001107854.1:n.5092-1G>T
XM_005255529.3:c.5032-1G>T	XP_005255586.2:n.5032-1G>T
XM_005255531.3:c.4963-1G>T	XP_005255588.2:n.4963-1G>T
XM_011522636.1:c.5215-1G>T	XP_011520938.1:n.5215-1G>T
XM_011522637.1:c.5212-1G>T	XP_011520939.1:n.5212-1G>T
XM_011522638.1:c.5104-1G>T	XP_011520940.1:n.5104-1G>T
XM_011522639.1:c.5086-1G>T	XP_011520941.1:n.5086-1G>T
XM_011522640.1:c.5083-1G>T	XP_011520942.1:n.5083-1G>T
XM_011522641.1:c.4852-1G>T	XP_011520943.1:n.4852-1G>T
NM_000548.4:c.5161-1G>T	NP_000539.2:n.5161-1G>T
NM_001077183.2:c.4960-1G>T	NP_001070651.1:n.4960-1G>T
NM_001114382.2:c.5092-1G>T	NP_001107854.1:n.5092-1G>T
NM_001318827.1:c.4852-1G>T	NP_001305756.1:n.4852-1G>T
NM_001318829.1:c.4816-1G>T	NP_001305758.1:n.4816-1G>T
NM_001318831.1:c.4429-1G>T	NP_001305760.1:n.4429-1G>T
NM_001318832.1:c.4993-1G>T	NP_001305761.1:n.4993-1G>T
NM_001363528.1:c.4963-1G>T	NP_001350457.1:n.4963-1G>T
NM_021055.2:c.5032-1G>T	NP_066399.2:n.5032-1G>T
XM_005255531.4:c.4963-1G>T	XP_005255588.2:n.4963-1G>T
XM_011522636.2:c.5215-1G>T	XP_011520938.1:n.5215-1G>T
XM_011522637.2:c.5212-1G>T	XP_011520939.1:n.5212-1G>T
XM_011522638.2:c.5377-1G>T	XP_011520940.2:n.5377-1G>T
XM_011522639.2:c.5086-1G>T	XP_011520941.1:n.5086-1G>T
XM_011522640.2:c.5083-1G>T	XP_011520942.1:n.5083-1G>T
XM_017023615.1:c.5158-1G>T	XP_016879104.1:n.5158-1G>T
XM_017023616.1:c.5029-1G>T	XP_016879105.1:n.5029-1G>T
XM_017023617.1:c.5125-1G>T	XP_016879106.1:n.5125-1G>T
XM_017023618.1:c.3871-1G>T	XP_016879107.1:n.3871-1G>T
XM_024450413.1:c.5046G>T	XP_024306181.1:p.Gln1682His
NM_000548.5:c.5161-1G>T MANE Select	NP_000539.2:n.5161-1G>T
NM_001370404.1:c.5029-1G>T	NP_001357333.1:n.5029-1G>T
NM_001370405.1:c.5032-13G>T	NP_001357334.1:n.5032-13G>T
NM_001077183.3:c.4960-1G>T	NP_001070651.1:n.4960-1G>T
NM_001114382.3:c.5092-1G>T	NP_001107854.1:n.5092-1G>T
NM_001318827.2:c.4852-1G>T	NP_001305756.1:n.4852-1G>T
NM_001318829.2:c.4816-1G>T	NP_001305758.1:n.4816-1G>T
NM_001318831.2:c.4429-1G>T	NP_001305760.1:n.4429-1G>T
NM_001318832.2:c.4993-1G>T	NP_001305761.1:n.4993-1G>T
NM_001363528.2:c.4963-1G>T	NP_001350457.1:n.4963-1G>T
NM_021055.3:c.5032-1G>T	NP_066399.2:n.5032-1G>T