Canonical Allele Identifier: CA394302947

Gene: TSC2

Linked Data

• gnomAD v4: 16-2084998-C-T
• MyVariant Identifiers: chr16:g.2134999C>T (hg19) ; chr16:g.2084998C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084998C>T , CM000678.2:g.2084998C>T	GRCh38
NC_000016.9:g.2134999C>T , CM000678.1:g.2134999C>T	GRCh37
NC_000016.8:g.2075000C>T	NCBI36
NG_005895.1:g.40693C>T , LRG_487:g.40693C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2890C>T	ENSP00000455997.2:n.*2890C>T
ENST00000642206.2:c.4388C>T	ENSP00000495146.2:p.Ser1463Leu
ENST00000642365.2:c.4538C>T	ENSP00000495459.2:p.Ser1513Leu
ENST00000644417.2:c.*4921C>T	ENSP00000493912.2:n.*4921C>T
ENST00000646464.2:c.*7290C>T	ENSP00000496610.2:n.*7290C>T
ENST00000219476.9:c.4541C>T MANE Select	ENSP00000219476.3:p.Ser1514Leu
ENST00000350773.9:c.4472C>T	ENSP00000344383.4:p.Ser1491Leu
ENST00000401874.7:c.4340C>T	ENSP00000384468.2:p.Ser1447Leu
ENST00000568454.6:c.4373C>T	ENSP00000454487.1:p.Ser1458Leu
ENST00000569110.2:c.764C>T
ENST00000569930.2:n.2423C>T
ENST00000642365.1:c.3195C>T
ENST00000642561.1:c.4412C>T	ENSP00000495099.1:p.Ser1471Leu
ENST00000642728.1:n.723C>T
ENST00000642797.1:c.4343C>T	ENSP00000493846.1:p.Ser1448Leu
ENST00000642936.1:c.4409C>T	ENSP00000494514.1:p.Ser1470Leu
ENST00000643088.1:c.4340C>T	ENSP00000494747.1:p.Ser1447Leu
ENST00000643177.1:n.555C>T
ENST00000643426.1:n.2189C>T
ENST00000643946.1:c.4472C>T	ENSP00000495927.1:p.Ser1491Leu
ENST00000644043.1:c.4412C>T	ENSP00000496262.1:p.Ser1471Leu
ENST00000644329.1:c.4340C>T	ENSP00000496611.1:p.Ser1447Leu
ENST00000644335.1:c.4343C>T	ENSP00000496317.1:p.Ser1448Leu
ENST00000644399.1:c.4462C>T
ENST00000645024.1:n.2625C>T
ENST00000646388.1:c.4541C>T	ENSP00000495921.1:p.Ser1514Leu
ENST00000646634.1:n.3356C>T
ENST00000646674.1:n.1793C>T
ENST00000647042.1:n.1764C>T
ENST00000647180.1:n.1654C>T
ENST00000219476.7:c.4541C>T	ENSP00000219476.3:p.Ser1514Leu
ENST00000350773.8:c.4472C>T	ENSP00000344383.4:p.Ser1491Leu
ENST00000382538.10:c.4196C>T	ENSP00000371978.6:p.Ser1399Leu
ENST00000401874.6:c.4340C>T	ENSP00000384468.2:p.Ser1447Leu
ENST00000439117.6:c.*3708C>T	ENSP00000406980.2:n.*3708C>T
ENST00000439673.6:c.4232C>T	ENSP00000399232.2:p.Ser1411Leu
ENST00000497886.5:n.2299C>T
ENST00000568454.5:c.4373C>T	ENSP00000454487.1:p.Ser1458Leu
ENST00000569110.1:c.723C>T
ENST00000569930.1:n.1656C>T
NM_000548.3:c.4541C>T , LRG_487t1:c.4541C>T	NP_000539.2:p.Ser1514Leu
NM_001077183.1:c.4340C>T	NP_001070651.1:p.Ser1447Leu
NM_001114382.1:c.4472C>T	NP_001107854.1:p.Ser1491Leu
XM_005255529.3:c.4412C>T	XP_005255586.2:p.Ser1471Leu
XM_005255531.3:c.4343C>T	XP_005255588.2:p.Ser1448Leu
XM_011522636.1:c.4595C>T	XP_011520938.1:p.Ser1532Leu
XM_011522637.1:c.4592C>T	XP_011520939.1:p.Ser1531Leu
XM_011522638.1:c.4484C>T	XP_011520940.1:p.Ser1495Leu
XM_011522639.1:c.4466C>T	XP_011520941.1:p.Ser1489Leu
XM_011522640.1:c.4463C>T	XP_011520942.1:p.Ser1488Leu
XM_011522641.1:c.4232C>T	XP_011520943.1:p.Ser1411Leu
NM_000548.4:c.4541C>T	NP_000539.2:p.Ser1514Leu
NM_001077183.2:c.4340C>T	NP_001070651.1:p.Ser1447Leu
NM_001114382.2:c.4472C>T	NP_001107854.1:p.Ser1491Leu
NM_001318827.1:c.4232C>T	NP_001305756.1:p.Ser1411Leu
NM_001318829.1:c.4196C>T	NP_001305758.1:p.Ser1399Leu
NM_001318831.1:c.3809C>T	NP_001305760.1:p.Ser1270Leu
NM_001318832.1:c.4373C>T	NP_001305761.1:p.Ser1458Leu
NM_001363528.1:c.4343C>T	NP_001350457.1:p.Ser1448Leu
NM_021055.2:c.4412C>T	NP_066399.2:p.Ser1471Leu
XM_005255531.4:c.4343C>T	XP_005255588.2:p.Ser1448Leu
XM_011522636.2:c.4595C>T	XP_011520938.1:p.Ser1532Leu
XM_011522637.2:c.4592C>T	XP_011520939.1:p.Ser1531Leu
XM_011522638.2:c.4757C>T	XP_011520940.2:p.Ser1586Leu
XM_011522639.2:c.4466C>T	XP_011520941.1:p.Ser1489Leu
XM_011522640.2:c.4463C>T	XP_011520942.1:p.Ser1488Leu
XM_017023615.1:c.4538C>T	XP_016879104.1:p.Ser1513Leu
XM_017023616.1:c.4409C>T	XP_016879105.1:p.Ser1470Leu
XM_017023617.1:c.4505C>T	XP_016879106.1:p.Ser1502Leu
XM_017023618.1:c.3251C>T	XP_016879107.1:p.Ser1084Leu
XM_024450413.1:c.4340C>T	XP_024306181.1:p.Ser1447Leu
NM_000548.5:c.4541C>T MANE Select	NP_000539.2:p.Ser1514Leu
NM_001370404.1:c.4409C>T	NP_001357333.1:p.Ser1470Leu
NM_001370405.1:c.4412C>T	NP_001357334.1:p.Ser1471Leu
NM_001077183.3:c.4340C>T	NP_001070651.1:p.Ser1447Leu
NM_001114382.3:c.4472C>T	NP_001107854.1:p.Ser1491Leu
NM_001318827.2:c.4232C>T	NP_001305756.1:p.Ser1411Leu
NM_001318829.2:c.4196C>T	NP_001305758.1:p.Ser1399Leu
NM_001318831.2:c.3809C>T	NP_001305760.1:p.Ser1270Leu
NM_001318832.2:c.4373C>T	NP_001305761.1:p.Ser1458Leu
NM_001363528.2:c.4343C>T	NP_001350457.1:p.Ser1448Leu
NM_021055.3:c.4412C>T	NP_066399.2:p.Ser1471Leu