Canonical Allele Identifier: CA2202031359

Gene: TSC2

Linked Data

• dbSNP Id: rs1596459295
• gnomAD v4: 16-2088206-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088206A>C , CM000678.2:g.2088206A>C	GRCh38
NC_000016.9:g.2138207A>C , CM000678.1:g.2138207A>C	GRCh37
NC_000016.8:g.2078208A>C	NCBI36
NG_005895.1:g.43901A>C , LRG_487:g.43901A>C
NG_008617.1:g.55015T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3510-21A>C	ENSP00000455997.2:n.*3510-21A>C
ENST00000642206.2:c.5008-21A>C	ENSP00000495146.2:n.5008-21A>C
ENST00000642365.2:c.5158-21A>C	ENSP00000495459.2:n.5158-21A>C
ENST00000644417.2:c.*5674-21A>C	ENSP00000493912.2:n.*5674-21A>C
ENST00000646464.2:c.*7910-21A>C	ENSP00000496610.2:n.*7910-21A>C
ENST00000219476.9:c.5161-21A>C MANE Select	ENSP00000219476.3:n.5161-21A>C
ENST00000350773.9:c.5092-21A>C	ENSP00000344383.4:n.5092-21A>C
ENST00000401874.7:c.4960-21A>C	ENSP00000384468.2:n.4960-21A>C
ENST00000568454.6:c.4993-21A>C	ENSP00000454487.1:n.4993-21A>C
ENST00000569110.2:c.1384-21A>C
ENST00000569930.2:n.3043-21A>C
ENST00000642365.1:c.3815-21A>C
ENST00000642561.1:c.5032-33A>C	ENSP00000495099.1:n.5032-33A>C
ENST00000642791.1:n.758-21A>C
ENST00000642797.1:c.4963-21A>C	ENSP00000493846.1:n.4963-21A>C
ENST00000642936.1:c.5029-21A>C	ENSP00000494514.1:n.5029-21A>C
ENST00000643088.1:c.4954-21A>C	ENSP00000494747.1:n.4954-21A>C
ENST00000643426.1:n.2809-21A>C
ENST00000643946.1:c.5086-21A>C	ENSP00000495927.1:n.5086-21A>C
ENST00000644043.1:c.5032-21A>C	ENSP00000496262.1:n.5032-21A>C
ENST00000644329.1:c.5026A>C	ENSP00000496611.1:p.Thr1676Pro
ENST00000644335.1:c.4957-21A>C	ENSP00000496317.1:n.4957-21A>C
ENST00000644399.1:c.5082-21A>C
ENST00000645024.1:n.3245-21A>C
ENST00000646388.1:c.5155-21A>C	ENSP00000495921.1:n.5155-21A>C
ENST00000646634.1:n.3976-21A>C
ENST00000646674.1:n.2413-21A>C
ENST00000647042.1:n.2384-21A>C
ENST00000647180.1:n.2274-21A>C
ENST00000219476.7:c.5161-21A>C	ENSP00000219476.3:n.5161-21A>C
ENST00000350773.8:c.5092-21A>C	ENSP00000344383.4:n.5092-21A>C
ENST00000382538.10:c.4816-21A>C	ENSP00000371978.6:n.4816-21A>C
ENST00000401874.6:c.4960-21A>C	ENSP00000384468.2:n.4960-21A>C
ENST00000439117.6:c.*4328-21A>C	ENSP00000406980.2:n.*4328-21A>C
ENST00000439673.6:c.4852-21A>C	ENSP00000399232.2:n.4852-21A>C
ENST00000497886.5:n.2884-21A>C
ENST00000568454.5:c.4993-21A>C	ENSP00000454487.1:n.4993-21A>C
ENST00000569110.1:c.1343-21A>C
ENST00000569930.1:n.2276-21A>C
NM_000548.3:c.5161-21A>C , LRG_487t1:c.5161-21A>C	NP_000539.2:n.5161-21A>C
NM_001077183.1:c.4960-21A>C	NP_001070651.1:n.4960-21A>C
NM_001114382.1:c.5092-21A>C	NP_001107854.1:n.5092-21A>C
XM_005255529.3:c.5032-21A>C	XP_005255586.2:n.5032-21A>C
XM_005255531.3:c.4963-21A>C	XP_005255588.2:n.4963-21A>C
XM_011522636.1:c.5215-21A>C	XP_011520938.1:n.5215-21A>C
XM_011522637.1:c.5212-21A>C	XP_011520939.1:n.5212-21A>C
XM_011522638.1:c.5104-21A>C	XP_011520940.1:n.5104-21A>C
XM_011522639.1:c.5086-21A>C	XP_011520941.1:n.5086-21A>C
XM_011522640.1:c.5083-21A>C	XP_011520942.1:n.5083-21A>C
XM_011522641.1:c.4852-21A>C	XP_011520943.1:n.4852-21A>C
NM_000548.4:c.5161-21A>C	NP_000539.2:n.5161-21A>C
NM_001077183.2:c.4960-21A>C	NP_001070651.1:n.4960-21A>C
NM_001114382.2:c.5092-21A>C	NP_001107854.1:n.5092-21A>C
NM_001318827.1:c.4852-21A>C	NP_001305756.1:n.4852-21A>C
NM_001318829.1:c.4816-21A>C	NP_001305758.1:n.4816-21A>C
NM_001318831.1:c.4429-21A>C	NP_001305760.1:n.4429-21A>C
NM_001318832.1:c.4993-21A>C	NP_001305761.1:n.4993-21A>C
NM_001363528.1:c.4963-21A>C	NP_001350457.1:n.4963-21A>C
NM_021055.2:c.5032-21A>C	NP_066399.2:n.5032-21A>C
XM_005255531.4:c.4963-21A>C	XP_005255588.2:n.4963-21A>C
XM_011522636.2:c.5215-21A>C	XP_011520938.1:n.5215-21A>C
XM_011522637.2:c.5212-21A>C	XP_011520939.1:n.5212-21A>C
XM_011522638.2:c.5377-21A>C	XP_011520940.2:n.5377-21A>C
XM_011522639.2:c.5086-21A>C	XP_011520941.1:n.5086-21A>C
XM_011522640.2:c.5083-21A>C	XP_011520942.1:n.5083-21A>C
XM_017023615.1:c.5158-21A>C	XP_016879104.1:n.5158-21A>C
XM_017023616.1:c.5029-21A>C	XP_016879105.1:n.5029-21A>C
XM_017023617.1:c.5125-21A>C	XP_016879106.1:n.5125-21A>C
XM_017023618.1:c.3871-21A>C	XP_016879107.1:n.3871-21A>C
XM_024450413.1:c.5026A>C	XP_024306181.1:p.Thr1676Pro
NM_000548.5:c.5161-21A>C MANE Select	NP_000539.2:n.5161-21A>C
NM_001370404.1:c.5029-21A>C	NP_001357333.1:n.5029-21A>C
NM_001370405.1:c.5032-33A>C	NP_001357334.1:n.5032-33A>C
NM_001077183.3:c.4960-21A>C	NP_001070651.1:n.4960-21A>C
NM_001114382.3:c.5092-21A>C	NP_001107854.1:n.5092-21A>C
NM_001318827.2:c.4852-21A>C	NP_001305756.1:n.4852-21A>C
NM_001318829.2:c.4816-21A>C	NP_001305758.1:n.4816-21A>C
NM_001318831.2:c.4429-21A>C	NP_001305760.1:n.4429-21A>C
NM_001318832.2:c.4993-21A>C	NP_001305761.1:n.4993-21A>C
NM_001363528.2:c.4963-21A>C	NP_001350457.1:n.4963-21A>C
NM_021055.3:c.5032-21A>C	NP_066399.2:n.5032-21A>C