Canonical Allele Identifier: CA2739279569

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2815191
• ClinVar RCV Id: RCV003751815

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626807_100626813dup , CM000669.2:g.100626807_100626813dup	GRCh38
NC_000007.13:g.100224430_100224436dup , CM000669.1:g.100224430_100224436dup	GRCh37
NC_000007.12:g.100062366_100062372dup	NCBI36
NG_007989.1:g.19741_19747dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2089_2095dup MANE Select	ENSP00000223051.3:p.Asp699GlyfsTer?
ENST00000223051.7:c.2089_2095dup	ENSP00000223051.3:p.Asp699GlyfsTer?
ENST00000431692.5:c.*764_*770dup	ENSP00000413905.1:n.*764_*770dup
ENST00000461176.1:n.435_441dup
ENST00000462090.5:n.1125_1131dup
ENST00000462107.1:c.2089_2095dup	ENSP00000420525.1:p.Asp699GlyfsTer?
ENST00000465294.5:n.2009_2015dup
ENST00000476304.5:n.1710_1716dup
ENST00000490084.5:c.1442_1448dup
NM_001206855.1:c.1576_1582dup	NP_001193784.1:p.Asp528GlyfsTer?
NM_003227.3:c.2089_2095dup	NP_003218.2:p.Asp699GlyfsTer?
XM_005250553.3:c.2089_2095dup	XP_005250610.1:p.Asp699GlyfsTer?
XM_005250554.3:c.2089_2095dup	XP_005250611.1:p.Asp699GlyfsTer24
XR_927814.1:n.433+4253_433+4259dup
NM_001206855.2:c.1576_1582dup	NP_001193784.1:p.Asp528GlyfsTer?
XM_005250553.4:c.2089_2095dup	XP_005250610.1:p.Asp699GlyfsTer?
XM_017012573.1:c.2089_2095dup	XP_016868062.1:p.Asp699GlyfsTer?
NM_003227.4:c.2089_2095dup MANE Select	NP_003218.2:p.Asp699GlyfsTer?
NM_001206855.3:c.1576_1582dup	NP_001193784.1:p.Asp528GlyfsTer?