Canonical Allele Identifier: CA2832592546

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626830T= , CM000669.2:g.100626830T=	GRCh38
NC_000007.13:g.100224453T= , CM000669.1:g.100224453T=	GRCh37
NC_000007.12:g.100062389T=	NCBI36
NG_007989.1:g.19721A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2069A= MANE Select	ENSP00000223051.3:p.Gln690=
ENST00000223051.7:c.2069A=	ENSP00000223051.3:p.Gln690=
ENST00000431692.5:c.*744A=	ENSP00000413905.1:n.*744A=
ENST00000461176.1:n.415A=
ENST00000462090.5:n.1105A=
ENST00000462107.1:c.2069A=	ENSP00000420525.1:p.Gln690=
ENST00000465294.5:n.1989A=
ENST00000476304.5:n.1690A=
ENST00000490084.5:c.1422A=
NM_001206855.1:c.1556A=	NP_001193784.1:p.Gln519=
NM_003227.3:c.2069A=	NP_003218.2:p.Gln690=
XM_005250553.3:c.2069A=	XP_005250610.1:p.Gln690=
XM_005250554.3:c.2069A=	XP_005250611.1:p.Gln690=
XR_927814.1:n.433+4276T=
NM_001206855.2:c.1556A=	NP_001193784.1:p.Gln519=
XM_005250553.4:c.2069A=	XP_005250610.1:p.Gln690=
XM_017012573.1:c.2069A=	XP_016868062.1:p.Gln690=
NM_003227.4:c.2069A= MANE Select	NP_003218.2:p.Gln690=
NM_001206855.3:c.1556A=	NP_001193784.1:p.Gln519=