Canonical Allele Identifier: CA367816310

Gene: TBL2

Linked Data

• MyVariant Identifiers: chr7:g.72987259T>A (hg19) ; chr7:g.73572929T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73572929T>A , CM000669.2:g.73572929T>A	GRCh38
NC_000007.13:g.72987259T>A , CM000669.1:g.72987259T>A	GRCh37
NC_000007.12:g.72625195T>A	NCBI36
NG_023281.1:g.10755A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305632.11:c.640A>T MANE Select	ENSP00000307260.4:p.Ile214Phe
ENST00000305632.9:c.640A>T	ENSP00000307260.4:p.Ile214Phe
ENST00000417008.5:c.*377A>T	ENSP00000407503.1:n.*377A>T
ENST00000424598.5:c.*557A>T	ENSP00000398195.1:n.*557A>T
ENST00000426966.5:c.*573A>T	ENSP00000410737.1:n.*573A>T
ENST00000432538.5:c.532A>T	ENSP00000413979.1:p.Ile178Phe
ENST00000433464.5:c.*249A>T	ENSP00000404242.1:n.*249A>T
ENST00000435792.5:c.*766A>T	ENSP00000408255.1:n.*766A>T
ENST00000437521.5:c.*573A>T	ENSP00000400569.1:n.*573A>T
ENST00000450285.5:c.*86A>T	ENSP00000409820.1:n.*86A>T
ENST00000452475.5:n.725A>T
ENST00000459913.5:n.807A>T
ENST00000495885.1:n.404A>T
ENST00000610724.4:c.640A>T	ENSP00000484750.1:p.Ile214Phe
NM_012453.2:c.640A>T	NP_036585.1:p.Ile214Phe
XM_006715923.2:c.541A>T	XP_006715986.1:p.Ile181Phe
XM_011516026.1:c.532A>T	XP_011514328.1:p.Ile178Phe
XM_011516027.1:c.145A>T	XP_011514329.1:p.Ile49Phe
NM_001362660.1:c.541A>T	NP_001349589.1:p.Ile181Phe
NM_001362661.1:c.145A>T	NP_001349590.1:p.Ile49Phe
NM_001362662.1:c.145A>T	NP_001349591.1:p.Ile49Phe
NM_001362663.1:c.145A>T	NP_001349592.1:p.Ile49Phe
NM_012453.3:c.640A>T	NP_036585.1:p.Ile214Phe
XM_006715923.4:c.541A>T	XP_006715986.1:p.Ile181Phe
XM_024446709.1:c.541A>T	XP_024302477.1:p.Ile181Phe
XM_024446712.1:c.145A>T	XP_024302480.1:p.Ile49Phe
XR_001744627.2:n.696A>T
NM_001362660.2:c.541A>T	NP_001349589.1:p.Ile181Phe
NM_001362661.2:c.145A>T	NP_001349590.1:p.Ile49Phe
NM_001362662.2:c.145A>T	NP_001349591.1:p.Ile49Phe
NM_001362663.2:c.145A>T	NP_001349592.1:p.Ile49Phe
NM_012453.4:c.640A>T MANE Select	NP_036585.1:p.Ile214Phe