Canonical Allele Identifier: CA368527576

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100628230C>T , CM000669.2:g.100628230C>T	GRCh38
NC_000007.13:g.100225853C>T , CM000669.1:g.100225853C>T	GRCh37
NC_000007.12:g.100063789C>T	NCBI36
NG_007989.1:g.18321G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003227.4:c.1467G>A MANE Select	NP_003218.2:p.Trp489Ter
ENST00000223051.8:c.1467G>A MANE Select	ENSP00000223051.3:p.Trp489Ter
NM_001206855.1:c.954G>A	NP_001193784.1:p.Trp318Ter
NM_001206855.2:c.954G>A	NP_001193784.1:p.Trp318Ter
NM_001206855.3:c.954G>A	NP_001193784.1:p.Trp318Ter
NM_003227.3:c.1467G>A	NP_003218.2:p.Trp489Ter
ENST00000223051.7:c.1467G>A	ENSP00000223051.3:p.Trp489Ter
ENST00000431692.5:c.*142G>A	ENSP00000413905.1:n.*142G>A
ENST00000462090.5:n.331G>A
ENST00000462107.1:c.1467G>A	ENSP00000420525.1:p.Trp489Ter
ENST00000465294.5:n.1215G>A
ENST00000473374.5:n.540G>A
ENST00000473963.1:n.496G>A
ENST00000476304.5:n.1088G>A
ENST00000490084.5:c.820G>A
XM_005250553.3:c.1467G>A	XP_005250610.1:p.Trp489Ter
XM_005250553.4:c.1467G>A	XP_005250610.1:p.Trp489Ter
XM_005250554.3:c.1467G>A	XP_005250611.1:p.Trp489Ter
XM_017012573.1:c.1467G>A	XP_016868062.1:p.Trp489Ter
XR_927814.1:n.434-2926C>T