Canonical Allele Identifier: CA3005015292

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626843_100626844del , CM000669.2:g.100626843_100626844del	GRCh38
NC_000007.13:g.100224466_100224467del , CM000669.1:g.100224466_100224467del	GRCh37
NC_000007.12:g.100062402_100062403del	NCBI36
NG_007989.1:g.19707_19708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2055_2056del MANE Select	ENSP00000223051.3:p.Glu686LysfsTer?
ENST00000223051.7:c.2055_2056del	ENSP00000223051.3:p.Glu686LysfsTer?
ENST00000431692.5:c.*730_*731del	ENSP00000413905.1:n.*730_*731del
ENST00000461176.1:n.401_402del
ENST00000462090.5:n.1091_1092del
ENST00000462107.1:c.2055_2056del	ENSP00000420525.1:p.Glu686LysfsTer?
ENST00000465294.5:n.1975_1976del
ENST00000476304.5:n.1676_1677del
ENST00000490084.5:c.1408_1409del
NM_001206855.1:c.1542_1543del	NP_001193784.1:p.Glu515LysfsTer?
NM_003227.3:c.2055_2056del	NP_003218.2:p.Glu686LysfsTer?
XM_005250553.3:c.2055_2056del	XP_005250610.1:p.Glu686LysfsTer?
XM_005250554.3:c.2055_2056del	XP_005250611.1:p.Glu686LysfsTer?
XR_927814.1:n.433+4289_433+4290del
NM_001206855.2:c.1542_1543del	NP_001193784.1:p.Glu515LysfsTer?
XM_005250553.4:c.2055_2056del	XP_005250610.1:p.Glu686LysfsTer?
XM_017012573.1:c.2055_2056del	XP_016868062.1:p.Glu686LysfsTer?
NM_003227.4:c.2055_2056del MANE Select	NP_003218.2:p.Glu686LysfsTer?
NM_001206855.3:c.1542_1543del	NP_001193784.1:p.Glu515LysfsTer?