Canonical Allele Identifier: CA2832592556

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100632099G= , CM000669.2:g.100632099G=	GRCh38
NC_000007.13:g.100229722G= , CM000669.1:g.100229722G=	GRCh37
NC_000007.12:g.100067658G=	NCBI36
NG_007989.1:g.14452C=

Transcript Alleles

HGVS	Amino-acid Change
NM_003227.4:c.949C= MANE Select	NP_003218.2:p.Gln317=
ENST00000223051.8:c.949C= MANE Select	ENSP00000223051.3:p.Gln317=
NM_001206855.1:c.436C=	NP_001193784.1:p.Gln146=
NM_001206855.2:c.436C=	NP_001193784.1:p.Gln146=
NM_001206855.3:c.436C=	NP_001193784.1:p.Gln146=
NM_003227.3:c.949C=	NP_003218.2:p.Gln317=
ENST00000223051.7:c.949C=	ENSP00000223051.3:p.Gln317=
ENST00000431692.5:c.849+902C=	ENSP00000413905.1:n.849+902C=
ENST00000462090.5:n.90+902C=
ENST00000462107.1:c.949C=	ENSP00000420525.1:p.Gln317=
ENST00000465294.5:n.854+902C=
ENST00000473374.5:n.299+902C=
ENST00000473571.1:n.403C=
ENST00000476304.5:n.570C=
ENST00000490084.5:c.204C=
XM_005250553.3:c.949C=	XP_005250610.1:p.Gln317=
XM_005250553.4:c.949C=	XP_005250610.1:p.Gln317=
XM_005250554.3:c.949C=	XP_005250611.1:p.Gln317=
XM_017012573.1:c.949C=	XP_016868062.1:p.Gln317=
XR_927814.1:n.504-824G=