Canonical Allele Identifier: CA456750545

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2124704
• ClinVar RCV Id: RCV003039747
• gnomAD v4: 7-100633274-C-T
• COSMIC: COSM4556173
• MyVariant Identifiers: chr7:g.100230897C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633274C>T , CM000669.2:g.100633274C>T	GRCh38
NC_000007.13:g.100230897C>T , CM000669.1:g.100230897C>T	GRCh37
NC_000007.12:g.100068833C>T	NCBI36
NG_007989.1:g.13277G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.681G>A MANE Select	ENSP00000223051.3:p.Glu227=
ENST00000223051.7:c.681G>A	ENSP00000223051.3:p.Glu227=
ENST00000431692.5:c.681G>A	ENSP00000413905.1:p.Glu227=
ENST00000462107.1:c.681G>A	ENSP00000420525.1:p.Glu227=
ENST00000465294.5:n.686G>A
ENST00000473374.5:n.131G>A
ENST00000473571.1:n.135G>A
ENST00000475011.1:n.210G>A
ENST00000476304.5:n.302G>A
NM_001206855.1:c.168G>A	NP_001193784.1:p.Glu56=
NM_003227.3:c.681G>A	NP_003218.2:p.Glu227=
XM_005250553.3:c.681G>A	XP_005250610.1:p.Glu227=
XM_005250554.3:c.681G>A	XP_005250611.1:p.Glu227=
NM_001206855.2:c.168G>A	NP_001193784.1:p.Glu56=
XM_005250553.4:c.681G>A	XP_005250610.1:p.Glu227=
XM_017012573.1:c.681G>A	XP_016868062.1:p.Glu227=
NM_003227.4:c.681G>A MANE Select	NP_003218.2:p.Glu227=
NM_001206855.3:c.168G>A	NP_001193784.1:p.Glu56=