Canonical Allele Identifier: CA2697557466

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2760944
• ClinVar RCV Id: RCV003590266

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633025dup , CM000669.2:g.100633025dup	GRCh38
NC_000007.13:g.100230648dup , CM000669.1:g.100230648dup	GRCh37
NC_000007.12:g.100068584dup	NCBI36
NG_007989.1:g.13530dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.829dup MANE Select	ENSP00000223051.3:p.Val277GlyfsTer?
ENST00000223051.7:c.829dup	ENSP00000223051.3:p.Val277GlyfsTer?
ENST00000431692.5:c.829dup	ENSP00000413905.1:p.Val277GlyfsTer24
ENST00000462090.5:n.70dup
ENST00000462107.1:c.829dup	ENSP00000420525.1:p.Val277GlyfsTer?
ENST00000465294.5:n.834dup
ENST00000473374.5:n.279dup
ENST00000473571.1:n.283dup
ENST00000475011.1:n.358dup
ENST00000476304.5:n.450dup
ENST00000490084.5:c.84dup
NM_001206855.1:c.316dup	NP_001193784.1:p.Val106GlyfsTer?
NM_003227.3:c.829dup	NP_003218.2:p.Val277GlyfsTer?
XM_005250553.3:c.829dup	XP_005250610.1:p.Val277GlyfsTer?
XM_005250554.3:c.829dup	XP_005250611.1:p.Val277GlyfsTer?
NM_001206855.2:c.316dup	NP_001193784.1:p.Val106GlyfsTer?
XM_005250553.4:c.829dup	XP_005250610.1:p.Val277GlyfsTer?
XM_017012573.1:c.829dup	XP_016868062.1:p.Val277GlyfsTer?
NM_003227.4:c.829dup MANE Select	NP_003218.2:p.Val277GlyfsTer?
NM_001206855.3:c.316dup	NP_001193784.1:p.Val106GlyfsTer?