Canonical Allele Identifier: CA2695208211

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626859_100626860insC , CM000669.2:g.100626859_100626860insC	GRCh38
NC_000007.13:g.100224482_100224483insC , CM000669.1:g.100224482_100224483insC	GRCh37
NC_000007.12:g.100062418_100062419insC	NCBI36
NG_007989.1:g.19691_19692insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2039_2040insG MANE Select	ENSP00000223051.3:p.Asp680GlufsTer?
ENST00000223051.7:c.2039_2040insG	ENSP00000223051.3:p.Asp680GlufsTer?
ENST00000431692.5:c.*714_*715insG	ENSP00000413905.1:n.*714_*715insG
ENST00000461176.1:n.385_386insG
ENST00000462090.5:n.1075_1076insG
ENST00000462107.1:c.2039_2040insG	ENSP00000420525.1:p.Asp680GlufsTer?
ENST00000465294.5:n.1959_1960insG
ENST00000476304.5:n.1660_1661insG
ENST00000490084.5:c.1392_1393insG
NM_001206855.1:c.1526_1527insG	NP_001193784.1:p.Asp509GlufsTer?
NM_003227.3:c.2039_2040insG	NP_003218.2:p.Asp680GlufsTer?
XM_005250553.3:c.2039_2040insG	XP_005250610.1:p.Asp680GlufsTer?
XM_005250554.3:c.2039_2040insG	XP_005250611.1:p.Asp680GlufsTer?
XR_927814.1:n.434-4297_434-4296insC
NM_001206855.2:c.1526_1527insG	NP_001193784.1:p.Asp509GlufsTer?
XM_005250553.4:c.2039_2040insG	XP_005250610.1:p.Asp680GlufsTer?
XM_017012573.1:c.2039_2040insG	XP_016868062.1:p.Asp680GlufsTer?
NM_003227.4:c.2039_2040insG MANE Select	NP_003218.2:p.Asp680GlufsTer?
NM_001206855.3:c.1526_1527insG	NP_001193784.1:p.Asp509GlufsTer?