Canonical Allele Identifier: CA2832592553

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100630973G= , CM000669.2:g.100630973G=	GRCh38
NC_000007.13:g.100228596G= , CM000669.1:g.100228596G=	GRCh37
NC_000007.12:g.100066532G=	NCBI36
NG_007989.1:g.15578C=

Transcript Alleles

HGVS	Amino-acid Change
NM_003227.4:c.1186C= MANE Select	NP_003218.2:p.Arg396=
ENST00000223051.8:c.1186C= MANE Select	ENSP00000223051.3:p.Arg396=
NM_001206855.1:c.673C=	NP_001193784.1:p.Arg225=
NM_001206855.2:c.673C=	NP_001193784.1:p.Arg225=
NM_001206855.3:c.673C=	NP_001193784.1:p.Arg225=
NM_003227.3:c.1186C=	NP_003218.2:p.Arg396=
ENST00000223051.7:c.1186C=	ENSP00000223051.3:p.Arg396=
ENST00000431692.5:c.929C=	ENSP00000413905.1:p.Thr310=
ENST00000462090.5:n.170C=
ENST00000462107.1:c.1186C=	ENSP00000420525.1:p.Arg396=
ENST00000465294.5:n.934C=
ENST00000473374.5:n.379C=
ENST00000473963.1:n.335C=
ENST00000476304.5:n.807C=
ENST00000490084.5:c.539C=
XM_005250553.3:c.1186C=	XP_005250610.1:p.Arg396=
XM_005250553.4:c.1186C=	XP_005250610.1:p.Arg396=
XM_005250554.3:c.1186C=	XP_005250611.1:p.Arg396=
XM_017012573.1:c.1186C=	XP_016868062.1:p.Arg396=
XR_927814.1:n.434-183G=