Canonical Allele Identifier: CA456894461

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100225230T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627607T>G , CM000669.2:g.100627607T>G	GRCh38
NC_000007.13:g.100225230T>G , CM000669.1:g.100225230T>G	GRCh37
NC_000007.12:g.100063166T>G	NCBI36
NG_007989.1:g.18944A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1737A>C MANE Select	ENSP00000223051.3:p.Gly579=
ENST00000223051.7:c.1737A>C	ENSP00000223051.3:p.Gly579=
ENST00000431692.5:c.*412A>C	ENSP00000413905.1:n.*412A>C
ENST00000462090.5:n.688A>C
ENST00000462107.1:c.1737A>C	ENSP00000420525.1:p.Gly579=
ENST00000465294.5:n.1572A>C
ENST00000473374.5:n.810A>C
ENST00000473963.1:n.766A>C
ENST00000476304.5:n.1358A>C
ENST00000490084.5:c.1090A>C
NM_001206855.1:c.1224A>C	NP_001193784.1:p.Gly408=
NM_003227.3:c.1737A>C	NP_003218.2:p.Gly579=
XM_005250553.3:c.1737A>C	XP_005250610.1:p.Gly579=
XM_005250554.3:c.1737A>C	XP_005250611.1:p.Gly579=
XR_927814.1:n.434-3549T>G
NM_001206855.2:c.1224A>C	NP_001193784.1:p.Gly408=
XM_005250553.4:c.1737A>C	XP_005250610.1:p.Gly579=
XM_017012573.1:c.1737A>C	XP_016868062.1:p.Gly579=
NM_003227.4:c.1737A>C MANE Select	NP_003218.2:p.Gly579=
NM_001206855.3:c.1224A>C	NP_001193784.1:p.Gly408=