Canonical Allele Identifier: CA2832592552
Gene: TFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633465C= , CM000669.2:g.100633465C= GRCh38
NC_000007.13:g.100231088C= , CM000669.1:g.100231088C= GRCh37
NC_000007.12:g.100069024C= NCBI36
NG_007989.1:g.13086G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.565G= MANE Select ENSP00000223051.3:p.Asp189=
ENST00000223051.7:c.565G= ENSP00000223051.3:p.Asp189=
ENST00000431692.5:c.565G= ENSP00000413905.1:p.Asp189=
ENST00000462107.1:c.565G= ENSP00000420525.1:p.Asp189=
ENST00000465294.5:n.570G=
ENST00000475011.1:n.94G=
ENST00000476304.5:n.186G=
NM_001206855.1:c.52G= NP_001193784.1:p.Asp18=
NM_003227.3:c.565G= NP_003218.2:p.Asp189=
XM_005250553.3:c.565G= XP_005250610.1:p.Asp189=
XM_005250554.3:c.565G= XP_005250611.1:p.Asp189=
NM_001206855.2:c.52G= NP_001193784.1:p.Asp18=
XM_005250553.4:c.565G= XP_005250610.1:p.Asp189=
XM_017012573.1:c.565G= XP_016868062.1:p.Asp189=
NM_003227.4:c.565G= MANE Select NP_003218.2:p.Asp189=
NM_001206855.3:c.52G= NP_001193784.1:p.Asp18=