Canonical Allele Identifier: CA368522892
Gene: TFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626843C>A , CM000669.2:g.100626843C>A GRCh38
NC_000007.13:g.100224466C>A , CM000669.1:g.100224466C>A GRCh37
NC_000007.12:g.100062402C>A NCBI36
NG_007989.1:g.19708G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.2056G>T MANE Select ENSP00000223051.3:p.Glu686Ter
ENST00000223051.7:c.2056G>T ENSP00000223051.3:p.Glu686Ter
ENST00000431692.5:c.*731G>T ENSP00000413905.1:n.*731G>T
ENST00000461176.1:n.402G>T
ENST00000462090.5:n.1092G>T
ENST00000462107.1:c.2056G>T ENSP00000420525.1:p.Glu686Ter
ENST00000465294.5:n.1976G>T
ENST00000476304.5:n.1677G>T
ENST00000490084.5:c.1409G>T
NM_001206855.1:c.1543G>T NP_001193784.1:p.Glu515Ter
NM_003227.3:c.2056G>T NP_003218.2:p.Glu686Ter
XM_005250553.3:c.2056G>T XP_005250610.1:p.Glu686Ter
XM_005250554.3:c.2056G>T XP_005250611.1:p.Glu686Ter
XR_927814.1:n.433+4289C>A
NM_001206855.2:c.1543G>T NP_001193784.1:p.Glu515Ter
XM_005250553.4:c.2056G>T XP_005250610.1:p.Glu686Ter
XM_017012573.1:c.2056G>T XP_016868062.1:p.Glu686Ter
NM_003227.4:c.2056G>T MANE Select NP_003218.2:p.Glu686Ter
NM_001206855.3:c.1543G>T NP_001193784.1:p.Glu515Ter