Canonical Allele Identifier: CA2684108031

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100641069del , CM000669.2:g.100641069del	GRCh38
NC_000007.13:g.100238692del , CM000669.1:g.100238692del	GRCh37
NC_000007.12:g.100076628del	NCBI36
NG_007989.1:g.5482del

Transcript Alleles

HGVS	Amino-acid Change
NM_003227.4:c.193del MANE Select	NP_003218.2:p.Arg65AspfsTer23
ENST00000223051.8:c.193del MANE Select	ENSP00000223051.3:p.Arg65AspfsTer23
NM_003227.3:c.193del	NP_003218.2:p.Arg65AspfsTer23
ENST00000223051.7:c.193del	ENSP00000223051.3:p.Arg65AspfsTer23
ENST00000431692.5:c.193del	ENSP00000413905.1:p.Arg65AspfsTer23
ENST00000462107.1:c.193del	ENSP00000420525.1:p.Arg65AspfsTer23
ENST00000465294.5:n.198del
ENST00000474947.1:n.351del
XM_005250553.3:c.193del	XP_005250610.1:p.Arg65AspfsTer23
XM_005250553.4:c.193del	XP_005250610.1:p.Arg65AspfsTer23
XM_005250554.3:c.193del	XP_005250611.1:p.Arg65AspfsTer23
XM_017012573.1:c.193del	XP_016868062.1:p.Arg65AspfsTer23