Canonical Allele Identifier: CA341989
Gene: TFR2 HGNC NCBI
COSMIC:
COSM5791720 (not active)
MyVariant.info:
GRCh38 chr7:g.100620889C>T
GRCh37 chr7:g.100218512C>T
Revel Score:
ENST00000223051 (MANE Select) 0.576
ENST00000462107 0.576
ENST00000544242 0.576
gnomAD v2:
7:100218512 C / T
gnomAD v3:
7:100620889 C / T
gnomAD v4:
chr7-100620889-C-T
Joint Max Group AF 0.00008508 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00008588 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100620889C>T , CM000669.2:g.100620889C>T GRCh38
NC_000007.13:g.100218512C>T , CM000669.1:g.100218512C>T GRCh37
NC_000007.12:g.100056448C>T NCBI36
NG_007989.1:g.25662G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.2374G>A MANE Select ENSP00000223051.3:p.Gly792Arg
ENST00000223051.7:c.2374G>A ENSP00000223051.3:p.Gly792Arg
ENST00000431692.5:c.*1049G>A ENSP00000413905.1:n.*1049G>A
ENST00000462090.5:n.1410G>A
ENST00000462107.1:c.2374G>A ENSP00000420525.1:p.Gly792Arg
ENST00000465294.5:n.2294G>A
ENST00000476304.5:n.1995G>A
ENST00000490084.5:c.1727G>A
NM_001206855.1:c.1861G>A NP_001193784.1:p.Gly621Arg
NM_003227.3:c.2374G>A NP_003218.2:p.Gly792Arg
XM_005250553.3:c.2374G>A XP_005250610.1:p.Gly792Arg
NM_001206855.2:c.1861G>A NP_001193784.1:p.Gly621Arg
XM_005250553.4:c.2374G>A XP_005250610.1:p.Gly792Arg
XM_017012573.1:c.2374G>A XP_016868062.1:p.Gly792Arg
NM_003227.4:c.2374G>A MANE Select NP_003218.2:p.Gly792Arg
NM_001206855.3:c.1861G>A NP_001193784.1:p.Gly621Arg
Search 100 bp 5'
Search 100 bp 3'