Canonical Allele Identifier: CA4288821

Gene: TBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73578530G>A , CM000669.2:g.73578530G>A	GRCh38
NC_000007.13:g.72992860G>A , CM000669.1:g.72992860G>A	GRCh37
NC_000007.12:g.72630796G>A	NCBI36
NG_023281.1:g.5154C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012453.4:c.20C>T MANE Select	NP_036585.1:p.Ser7Leu
ENST00000305632.11:c.20C>T MANE Select	ENSP00000307260.4:p.Ser7Leu
NM_001362660.1:c.-241C>T	NP_001349589.1:n.-241C>T
NM_001362660.2:c.-241C>T	NP_001349589.1:n.-241C>T
NM_001362661.1:c.-453C>T	NP_001349590.1:n.-453C>T
NM_001362661.2:c.-453C>T	NP_001349590.1:n.-453C>T
NM_001362662.1:c.-614C>T	NP_001349591.1:n.-614C>T
NM_001362662.2:c.-614C>T	NP_001349591.1:n.-614C>T
NM_012453.2:c.20C>T	NP_036585.1:p.Ser7Leu
NM_012453.3:c.20C>T	NP_036585.1:p.Ser7Leu
ENST00000305632.9:c.20C>T	ENSP00000307260.4:p.Ser7Leu
ENST00000417008.5:c.20C>T	ENSP00000407503.1:p.Ser7Leu
ENST00000424598.5:c.20C>T	ENSP00000398195.1:p.Ser7Leu
ENST00000426966.5:c.20C>T	ENSP00000410737.1:p.Ser7Leu
ENST00000433464.5:c.20C>T	ENSP00000404242.1:p.Ser7Leu
ENST00000435792.5:c.20C>T	ENSP00000408255.1:p.Ser7Leu
ENST00000450285.5:c.20C>T	ENSP00000409820.1:p.Ser7Leu
ENST00000452475.5:n.105C>T
ENST00000458466.1:c.20C>T	ENSP00000406418.1:p.Ser7Leu
ENST00000479892.5:c.-156+213C>T	ENSP00000480898.1:n.-156+213C>T
ENST00000496056.5:n.47C>T
ENST00000610724.4:c.20C>T	ENSP00000484750.1:p.Ser7Leu
XM_011516027.1:c.-453C>T	XP_011514329.1:n.-453C>T
XR_001744627.2:n.76C>T