Canonical Allele Identifier: CA2497214369

Gene: TFR2

Linked Data

• dbSNP Id: rs1803510712

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633499_100633500del , CM000669.2:g.100633499_100633500del	GRCh38
NC_000007.13:g.100231122_100231123del , CM000669.1:g.100231122_100231123del	GRCh37
NC_000007.12:g.100069058_100069059del	NCBI36
NG_007989.1:g.13051_13052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.530_531del MANE Select	ENSP00000223051.3:p.Gln177ArgfsTer?
ENST00000223051.7:c.530_531del	ENSP00000223051.3:p.Gln177ArgfsTer?
ENST00000431692.5:c.530_531del	ENSP00000413905.1:p.Gln177ArgfsTer?
ENST00000462107.1:c.530_531del	ENSP00000420525.1:p.Gln177ArgfsTer?
ENST00000465294.5:n.535_536del
ENST00000475011.1:n.59_60del
ENST00000476304.5:n.151_152del
NM_001206855.1:c.17_18del	NP_001193784.1:p.Gln6ArgfsTer?
NM_003227.3:c.530_531del	NP_003218.2:p.Gln177ArgfsTer?
XM_005250553.3:c.530_531del	XP_005250610.1:p.Gln177ArgfsTer?
XM_005250554.3:c.530_531del	XP_005250611.1:p.Gln177ArgfsTer?
NM_001206855.2:c.17_18del	NP_001193784.1:p.Gln6ArgfsTer?
XM_005250553.4:c.530_531del	XP_005250610.1:p.Gln177ArgfsTer?
XM_017012573.1:c.530_531del	XP_016868062.1:p.Gln177ArgfsTer?
NM_003227.4:c.530_531del MANE Select	NP_003218.2:p.Gln177ArgfsTer?
NM_001206855.3:c.17_18del	NP_001193784.1:p.Gln6ArgfsTer?