Canonical Allele Identifier: CA2578963347

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627298_100627300dup , CM000669.2:g.100627298_100627300dup	GRCh38
NC_000007.13:g.100224921_100224923dup , CM000669.1:g.100224921_100224923dup	GRCh37
NC_000007.12:g.100062857_100062859dup	NCBI36
NG_007989.1:g.19252_19254dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1960_1962dup MANE Select	ENSP00000223051.3:p.Ile654_Gly655insIle
ENST00000223051.7:c.1960_1962dup	ENSP00000223051.3:p.Ile654_Gly655insIle
ENST00000431692.5:c.*635_*637dup	ENSP00000413905.1:n.*635_*637dup
ENST00000461176.1:n.306_308dup
ENST00000462090.5:n.996_998dup
ENST00000462107.1:c.1960_1962dup	ENSP00000420525.1:p.Ile654_Gly655insIle
ENST00000465294.5:n.1880_1882dup
ENST00000476304.5:n.1581_1583dup
ENST00000490084.5:c.1313_1315dup
NM_001206855.1:c.1447_1449dup	NP_001193784.1:p.Ile483_Gly484insIle
NM_003227.3:c.1960_1962dup	NP_003218.2:p.Ile654_Gly655insIle
XM_005250553.3:c.1960_1962dup	XP_005250610.1:p.Ile654_Gly655insIle
XM_005250554.3:c.1960_1962dup	XP_005250611.1:p.Ile654_Gly655insIle
XR_927814.1:n.434-3858_434-3856dup
NM_001206855.2:c.1447_1449dup	NP_001193784.1:p.Ile483_Gly484insIle
XM_005250553.4:c.1960_1962dup	XP_005250610.1:p.Ile654_Gly655insIle
XM_017012573.1:c.1960_1962dup	XP_016868062.1:p.Ile654_Gly655insIle
NM_003227.4:c.1960_1962dup MANE Select	NP_003218.2:p.Ile654_Gly655insIle
NM_001206855.3:c.1447_1449dup	NP_001193784.1:p.Ile483_Gly484insIle