Canonical Allele Identifier: CA2840494230

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633109dup , CM000669.2:g.100633109dup	GRCh38
NC_000007.13:g.100230732dup , CM000669.1:g.100230732dup	GRCh37
NC_000007.12:g.100068668dup	NCBI36
NG_007989.1:g.13442dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.741dup MANE Select	ENSP00000223051.3:p.Ala248ArgfsTer?
ENST00000223051.7:c.741dup	ENSP00000223051.3:p.Ala248ArgfsTer?
ENST00000431692.5:c.741dup	ENSP00000413905.1:p.Ala248ArgfsTer?
ENST00000462107.1:c.741dup	ENSP00000420525.1:p.Ala248ArgfsTer?
ENST00000465294.5:n.746dup
ENST00000473374.5:n.191dup
ENST00000473571.1:n.195dup
ENST00000475011.1:n.270dup
ENST00000476304.5:n.362dup
NM_001206855.1:c.228dup	NP_001193784.1:p.Ala77ArgfsTer?
NM_003227.3:c.741dup	NP_003218.2:p.Ala248ArgfsTer?
XM_005250553.3:c.741dup	XP_005250610.1:p.Ala248ArgfsTer?
XM_005250554.3:c.741dup	XP_005250611.1:p.Ala248ArgfsTer?
NM_001206855.2:c.228dup	NP_001193784.1:p.Ala77ArgfsTer?
XM_005250553.4:c.741dup	XP_005250610.1:p.Ala248ArgfsTer?
XM_017012573.1:c.741dup	XP_016868062.1:p.Ala248ArgfsTer?
NM_003227.4:c.741dup MANE Select	NP_003218.2:p.Ala248ArgfsTer?
NM_001206855.3:c.228dup	NP_001193784.1:p.Ala77ArgfsTer?