Canonical Allele Identifier: CA2684109288

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633090-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633093del , CM000669.2:g.100633093del	GRCh38
NC_000007.13:g.100230716del , CM000669.1:g.100230716del	GRCh37
NC_000007.12:g.100068652del	NCBI36
NG_007989.1:g.13460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.759del MANE Select	ENSP00000223051.3:p.Glu254LysfsTer24
ENST00000223051.7:c.759del	ENSP00000223051.3:p.Glu254LysfsTer24
ENST00000431692.5:c.759del	ENSP00000413905.1:p.Glu254LysfsTer24
ENST00000462107.1:c.759del	ENSP00000420525.1:p.Glu254LysfsTer24
ENST00000465294.5:n.764del
ENST00000473374.5:n.209del
ENST00000473571.1:n.213del
ENST00000475011.1:n.288del
ENST00000476304.5:n.380del
ENST00000490084.5:c.14del
NM_001206855.1:c.246del	NP_001193784.1:p.Glu83LysfsTer24
NM_003227.3:c.759del	NP_003218.2:p.Glu254LysfsTer24
XM_005250553.3:c.759del	XP_005250610.1:p.Glu254LysfsTer24
XM_005250554.3:c.759del	XP_005250611.1:p.Glu254LysfsTer24
NM_001206855.2:c.246del	NP_001193784.1:p.Glu83LysfsTer24
XM_005250553.4:c.759del	XP_005250610.1:p.Glu254LysfsTer24
XM_017012573.1:c.759del	XP_016868062.1:p.Glu254LysfsTer24
NM_003227.4:c.759del MANE Select	NP_003218.2:p.Glu254LysfsTer24
NM_001206855.3:c.246del	NP_001193784.1:p.Glu83LysfsTer24