Canonical Allele Identifier: CA368522886
Gene: TFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626841T>A , CM000669.2:g.100626841T>A GRCh38
NC_000007.13:g.100224464T>A , CM000669.1:g.100224464T>A GRCh37
NC_000007.12:g.100062400T>A NCBI36
NG_007989.1:g.19710A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.2058A>T MANE Select ENSP00000223051.3:p.Glu686Asp
ENST00000223051.7:c.2058A>T ENSP00000223051.3:p.Glu686Asp
ENST00000431692.5:c.*733A>T ENSP00000413905.1:n.*733A>T
ENST00000461176.1:n.404A>T
ENST00000462090.5:n.1094A>T
ENST00000462107.1:c.2058A>T ENSP00000420525.1:p.Glu686Asp
ENST00000465294.5:n.1978A>T
ENST00000476304.5:n.1679A>T
ENST00000490084.5:c.1411A>T
NM_001206855.1:c.1545A>T NP_001193784.1:p.Glu515Asp
NM_003227.3:c.2058A>T NP_003218.2:p.Glu686Asp
XM_005250553.3:c.2058A>T XP_005250610.1:p.Glu686Asp
XM_005250554.3:c.2058A>T XP_005250611.1:p.Glu686Asp
XR_927814.1:n.433+4287T>A
NM_001206855.2:c.1545A>T NP_001193784.1:p.Glu515Asp
XM_005250553.4:c.2058A>T XP_005250610.1:p.Glu686Asp
XM_017012573.1:c.2058A>T XP_016868062.1:p.Glu686Asp
NM_003227.4:c.2058A>T MANE Select NP_003218.2:p.Glu686Asp
NM_001206855.3:c.1545A>T NP_001193784.1:p.Glu515Asp