Canonical Allele Identifier: CA117472
Gene: TFR2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5383
dbSNP Id: rs41303501

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100629279C>T , CM000669.2:g.100629279C>T GRCh38
NC_000007.13:g.100226902C>T , CM000669.1:g.100226902C>T GRCh37
NC_000007.12:g.100064838C>T NCBI36
NG_007989.1:g.17272G>A

Transcript Alleles

HGVS Amino-acid change
NM_001206855.1:c.851G>A VV NP_001193784.1:p.Arg284Gln
NM_003227.3:c.1364G>A VV NP_003218.2:p.Arg455Gln
XM_005250553.3:c.1364G>A XP_005250610.1:p.Arg455Gln
XM_005250554.3:c.1364G>A XP_005250611.1:p.Arg455Gln
XR_927814.1:n.434-1877C>T
NM_001206855.2:c.851G>A VV NP_001193784.1:p.Arg284Gln
XM_005250553.4:c.1364G>A XP_005250610.1:p.Arg455Gln
XM_017012573.1:c.1364G>A XP_016868062.1:p.Arg455Gln
NM_003227.4:c.1364G>A VV MANE Preferred NP_003218.2:p.Arg455Gln
ENST00000223051.7:c.1364G>A ENSP00000223051.3:p.Arg455Gln
ENST00000431692.5:c.*39G>A ENSP00000413905.1:p.=
ENST00000462090.5:n.255-973G>A
ENST00000462107.1:c.1364G>A ENSP00000420525.1:p.Arg455Gln
ENST00000465294.5:n.1112G>A
ENST00000473374.5:n.464-973G>A
ENST00000473963.1:n.420-973G>A
ENST00000476304.5:n.985G>A
ENST00000490084.5:n.717G>A