Canonical Allele Identifier: CA2580775838
Gene: TFR2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_003227.4:c.1364G= MANE Select NP_003218.2:p.Arg455=
ENST00000223051.8:c.1364G= MANE Select ENSP00000223051.3:p.Arg455=
NM_001206855.1:c.851G= NP_001193784.1:p.Arg284=
NM_001206855.2:c.851G= NP_001193784.1:p.Arg284=
NM_001206855.3:c.851G= NP_001193784.1:p.Arg284=
NM_003227.3:c.1364G= NP_003218.2:p.Arg455=
ENST00000223051.7:c.1364G= ENSP00000223051.3:p.Arg455=
ENST00000431692.5:c.*39G= ENSP00000413905.1:n.*39G=
ENST00000462090.5:n.255-973G=
ENST00000462107.1:c.1364G= ENSP00000420525.1:p.Arg455=
ENST00000465294.5:n.1112G=
ENST00000473374.5:n.464-973G=
ENST00000473963.1:n.420-973G=
ENST00000476304.5:n.985G=
ENST00000490084.5:c.717G=
XM_005250553.3:c.1364G= XP_005250610.1:p.Arg455=
XM_005250553.4:c.1364G= XP_005250610.1:p.Arg455=
XM_005250554.3:c.1364G= XP_005250611.1:p.Arg455=
XM_017012573.1:c.1364G= XP_016868062.1:p.Arg455=
XR_927814.1:n.434-1877C=