Canonical Allele Identifier: CA3005015282

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626834dup , CM000669.2:g.100626834dup	GRCh38
NC_000007.13:g.100224457dup , CM000669.1:g.100224457dup	GRCh37
NC_000007.12:g.100062393dup	NCBI36
NG_007989.1:g.19717dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2065dup MANE Select	ENSP00000223051.3:p.Arg689ProfsTer?
ENST00000223051.7:c.2065dup	ENSP00000223051.3:p.Arg689ProfsTer?
ENST00000431692.5:c.*740dup	ENSP00000413905.1:n.*740dup
ENST00000461176.1:n.411dup
ENST00000462090.5:n.1101dup
ENST00000462107.1:c.2065dup	ENSP00000420525.1:p.Arg689ProfsTer?
ENST00000465294.5:n.1985dup
ENST00000476304.5:n.1686dup
ENST00000490084.5:c.1418dup
NM_001206855.1:c.1552dup	NP_001193784.1:p.Arg518ProfsTer?
NM_003227.3:c.2065dup	NP_003218.2:p.Arg689ProfsTer?
XM_005250553.3:c.2065dup	XP_005250610.1:p.Arg689ProfsTer?
XM_005250554.3:c.2065dup	XP_005250611.1:p.Arg689ProfsTer?
XR_927814.1:n.433+4280dup
NM_001206855.2:c.1552dup	NP_001193784.1:p.Arg518ProfsTer?
XM_005250553.4:c.2065dup	XP_005250610.1:p.Arg689ProfsTer?
XM_017012573.1:c.2065dup	XP_016868062.1:p.Arg689ProfsTer?
NM_003227.4:c.2065dup MANE Select	NP_003218.2:p.Arg689ProfsTer?
NM_001206855.3:c.1552dup	NP_001193784.1:p.Arg518ProfsTer?