Canonical Allele Identifier: CA160076724

Gene: TBL2

Linked Data

• dbSNP Id: rs782394069
• gnomAD v2: 7-72987254-C-G
• gnomAD v3: 7-73572924-C-G
• gnomAD v4: 7-73572924-C-G
• MyVariant Identifiers: chr7:g.72987254C>G (hg19) ; chr7:g.73572924C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73572924C>G , CM000669.2:g.73572924C>G	GRCh38
NC_000007.13:g.72987254C>G , CM000669.1:g.72987254C>G	GRCh37
NC_000007.12:g.72625190C>G	NCBI36
NG_023281.1:g.10760G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305632.11:c.645G>C MANE Select	ENSP00000307260.4:p.Trp215Cys
ENST00000305632.9:c.645G>C	ENSP00000307260.4:p.Trp215Cys
ENST00000417008.5:c.*382G>C	ENSP00000407503.1:n.*382G>C
ENST00000424598.5:c.*562G>C	ENSP00000398195.1:n.*562G>C
ENST00000426966.5:c.*578G>C	ENSP00000410737.1:n.*578G>C
ENST00000432538.5:c.537G>C	ENSP00000413979.1:p.Trp179Cys
ENST00000433464.5:c.*254G>C	ENSP00000404242.1:n.*254G>C
ENST00000435792.5:c.*771G>C	ENSP00000408255.1:n.*771G>C
ENST00000437521.5:c.*578G>C	ENSP00000400569.1:n.*578G>C
ENST00000450285.5:c.*91G>C	ENSP00000409820.1:n.*91G>C
ENST00000452475.5:n.730G>C
ENST00000459913.5:n.812G>C
ENST00000495885.1:n.409G>C
ENST00000610724.4:c.645G>C	ENSP00000484750.1:p.Trp215Cys
NM_012453.2:c.645G>C	NP_036585.1:p.Trp215Cys
XM_006715923.2:c.546G>C	XP_006715986.1:p.Trp182Cys
XM_011516026.1:c.537G>C	XP_011514328.1:p.Trp179Cys
XM_011516027.1:c.150G>C	XP_011514329.1:p.Trp50Cys
NM_001362660.1:c.546G>C	NP_001349589.1:p.Trp182Cys
NM_001362661.1:c.150G>C	NP_001349590.1:p.Trp50Cys
NM_001362662.1:c.150G>C	NP_001349591.1:p.Trp50Cys
NM_001362663.1:c.150G>C	NP_001349592.1:p.Trp50Cys
NM_012453.3:c.645G>C	NP_036585.1:p.Trp215Cys
XM_006715923.4:c.546G>C	XP_006715986.1:p.Trp182Cys
XM_024446709.1:c.546G>C	XP_024302477.1:p.Trp182Cys
XM_024446712.1:c.150G>C	XP_024302480.1:p.Trp50Cys
XR_001744627.2:n.701G>C
NM_001362660.2:c.546G>C	NP_001349589.1:p.Trp182Cys
NM_001362661.2:c.150G>C	NP_001349590.1:p.Trp50Cys
NM_001362662.2:c.150G>C	NP_001349591.1:p.Trp50Cys
NM_001362663.2:c.150G>C	NP_001349592.1:p.Trp50Cys
NM_012453.4:c.645G>C MANE Select	NP_036585.1:p.Trp215Cys