Canonical Allele Identifier: CA2841631522

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627425del , CM000669.2:g.100627425del	GRCh38
NC_000007.13:g.100225048del , CM000669.1:g.100225048del	GRCh37
NC_000007.12:g.100062984del	NCBI36
NG_007989.1:g.19126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1834del MANE Select	ENSP00000223051.3:p.Gln612LysfsTer?
ENST00000223051.7:c.1834del	ENSP00000223051.3:p.Gln612LysfsTer?
ENST00000431692.5:c.*509del	ENSP00000413905.1:n.*509del
ENST00000461176.1:n.180del
ENST00000462090.5:n.870del
ENST00000462107.1:c.1834del	ENSP00000420525.1:p.Gln612LysfsTer?
ENST00000465294.5:n.1754del
ENST00000476304.5:n.1455del
ENST00000490084.5:c.1187del
NM_001206855.1:c.1321del	NP_001193784.1:p.Gln441LysfsTer?
NM_003227.3:c.1834del	NP_003218.2:p.Gln612LysfsTer?
XM_005250553.3:c.1834del	XP_005250610.1:p.Gln612LysfsTer?
XM_005250554.3:c.1834del	XP_005250611.1:p.Gln612LysfsTer?
XR_927814.1:n.434-3731del
NM_001206855.2:c.1321del	NP_001193784.1:p.Gln441LysfsTer?
XM_005250553.4:c.1834del	XP_005250610.1:p.Gln612LysfsTer?
XM_017012573.1:c.1834del	XP_016868062.1:p.Gln612LysfsTer?
NM_003227.4:c.1834del MANE Select	NP_003218.2:p.Gln612LysfsTer?
NM_001206855.3:c.1321del	NP_001193784.1:p.Gln441LysfsTer?