Canonical Allele Identifier: CA2580775840
Gene: TFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633010G= , CM000669.2:g.100633010G= GRCh38
NC_000007.13:g.100230633G= , CM000669.1:g.100230633G= GRCh37
NC_000007.12:g.100068569G= NCBI36
NG_007989.1:g.13541C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.840C= MANE Select ENSP00000223051.3:p.Phe280=
ENST00000223051.7:c.840C= ENSP00000223051.3:p.Phe280=
ENST00000431692.5:c.840C= ENSP00000413905.1:p.Phe280=
ENST00000462090.5:n.81C=
ENST00000462107.1:c.840C= ENSP00000420525.1:p.Phe280=
ENST00000465294.5:n.845C=
ENST00000473374.5:n.290C=
ENST00000473571.1:n.294C=
ENST00000475011.1:n.369C=
ENST00000476304.5:n.461C=
ENST00000490084.5:c.95C=
NM_001206855.1:c.327C= NP_001193784.1:p.Phe109=
NM_003227.3:c.840C= NP_003218.2:p.Phe280=
XM_005250553.3:c.840C= XP_005250610.1:p.Phe280=
XM_005250554.3:c.840C= XP_005250611.1:p.Phe280=
NM_001206855.2:c.327C= NP_001193784.1:p.Phe109=
XM_005250553.4:c.840C= XP_005250610.1:p.Phe280=
XM_017012573.1:c.840C= XP_016868062.1:p.Phe280=
NM_003227.4:c.840C= MANE Select NP_003218.2:p.Phe280=
NM_001206855.3:c.327C= NP_001193784.1:p.Phe109=