Canonical Allele Identifier: CA367816317

Gene: TBL2

Linked Data

• MyVariant Identifiers: chr7:g.72987262G>A (hg19) ; chr7:g.73572932G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73572932G>A , CM000669.2:g.73572932G>A	GRCh38
NC_000007.13:g.72987262G>A , CM000669.1:g.72987262G>A	GRCh37
NC_000007.12:g.72625198G>A	NCBI36
NG_023281.1:g.10752C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305632.11:c.637C>T MANE Select	ENSP00000307260.4:p.Leu213Phe
ENST00000305632.9:c.637C>T	ENSP00000307260.4:p.Leu213Phe
ENST00000417008.5:c.*374C>T	ENSP00000407503.1:n.*374C>T
ENST00000424598.5:c.*554C>T	ENSP00000398195.1:n.*554C>T
ENST00000426966.5:c.*570C>T	ENSP00000410737.1:n.*570C>T
ENST00000432538.5:c.529C>T	ENSP00000413979.1:p.Leu177Phe
ENST00000433464.5:c.*246C>T	ENSP00000404242.1:n.*246C>T
ENST00000435792.5:c.*763C>T	ENSP00000408255.1:n.*763C>T
ENST00000437521.5:c.*570C>T	ENSP00000400569.1:n.*570C>T
ENST00000450285.5:c.*83C>T	ENSP00000409820.1:n.*83C>T
ENST00000452475.5:n.722C>T
ENST00000459913.5:n.804C>T
ENST00000495885.1:n.401C>T
ENST00000610724.4:c.637C>T	ENSP00000484750.1:p.Leu213Phe
NM_012453.2:c.637C>T	NP_036585.1:p.Leu213Phe
XM_006715923.2:c.538C>T	XP_006715986.1:p.Leu180Phe
XM_011516026.1:c.529C>T	XP_011514328.1:p.Leu177Phe
XM_011516027.1:c.142C>T	XP_011514329.1:p.Leu48Phe
NM_001362660.1:c.538C>T	NP_001349589.1:p.Leu180Phe
NM_001362661.1:c.142C>T	NP_001349590.1:p.Leu48Phe
NM_001362662.1:c.142C>T	NP_001349591.1:p.Leu48Phe
NM_001362663.1:c.142C>T	NP_001349592.1:p.Leu48Phe
NM_012453.3:c.637C>T	NP_036585.1:p.Leu213Phe
XM_006715923.4:c.538C>T	XP_006715986.1:p.Leu180Phe
XM_024446709.1:c.538C>T	XP_024302477.1:p.Leu180Phe
XM_024446712.1:c.142C>T	XP_024302480.1:p.Leu48Phe
XR_001744627.2:n.693C>T
NM_001362660.2:c.538C>T	NP_001349589.1:p.Leu180Phe
NM_001362661.2:c.142C>T	NP_001349590.1:p.Leu48Phe
NM_001362662.2:c.142C>T	NP_001349591.1:p.Leu48Phe
NM_001362663.2:c.142C>T	NP_001349592.1:p.Leu48Phe
NM_012453.4:c.637C>T MANE Select	NP_036585.1:p.Leu213Phe