Canonical Allele Identifier: CA210711
Gene: TG HGNC NCBI
COSMIC:
COSM116480
MyVariant.info:
GRCh38 chr8:g.133022121G>A
GRCh37 chr8:g.134034366G>A
Revel Score:
ENST00000377869 0.923
ENST00000543313 0.923
ENST00000220616 (MANE Select) 0.923
ENST00000542445 0.923
ENST00000519543 0.923
gnomAD v2:
8:134034366 G / A
gnomAD v3:
8:133022121 G / A
gnomAD v4:
chr8-133022121-G-A
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.133022121G>A , CM000670.2:g.133022121G>A GRCh38
NC_000008.10:g.134034366G>A , CM000670.1:g.134034366G>A GRCh37
NC_000008.9:g.134103548G>A NCBI36
NG_015832.1:g.160162G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220616.9:c.7007G>A MANE Select ENSP00000220616.4:p.Arg2336Gln
ENST00000220616.8:c.7007G>A ENSP00000220616.4:p.Arg2336Gln
ENST00000518108.1:c.393G>A
ENST00000519178.5:c.2373G>A
ENST00000519543.5:c.1406G>A ENSP00000430430.1:p.Arg469Gln
ENST00000523756.5:c.3662G>A
NM_003235.4:c.7007G>A NP_003226.4:p.Arg2336Gln
XM_005251038.3:c.6815G>A XP_005251095.1:p.Arg2272Gln
XM_006716622.2:c.6944G>A XP_006716685.1:p.Arg2315Gln
XM_005251038.4:c.6815G>A XP_005251095.1:p.Arg2272Gln
XM_006716622.3:c.6944G>A XP_006716685.1:p.Arg2315Gln
XM_017013793.1:c.6941G>A XP_016869282.1:p.Arg2314Gln
XM_017013794.1:c.7007G>A XP_016869283.1:p.Arg2336Gln
XM_017013795.1:c.6836G>A XP_016869284.1:p.Arg2279Gln
XM_017013796.1:c.6788G>A XP_016869285.1:p.Arg2263Gln
XM_017013797.1:c.6746G>A XP_016869286.1:p.Arg2249Gln
XM_017013798.1:c.7007G>A XP_016869287.1:p.Arg2336Gln
NM_003235.5:c.7007G>A MANE Select NP_003226.4:p.Arg2336Gln
Search 100 bp 5'
Search 100 bp 3'