Canonical Allele Identifier: CA2697557467

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2749051
• ClinVar RCV Id: RCV003589410

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633097_100633100del , CM000669.2:g.100633097_100633100del	GRCh38
NC_000007.13:g.100230720_100230723del , CM000669.1:g.100230720_100230723del	GRCh37
NC_000007.12:g.100068656_100068659del	NCBI36
NG_007989.1:g.13454_13457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.753_756del MANE Select	ENSP00000223051.3:p.Arg252ProfsTer25
ENST00000223051.7:c.753_756del	ENSP00000223051.3:p.Arg252ProfsTer25
ENST00000431692.5:c.753_756del	ENSP00000413905.1:p.Arg252ProfsTer25
ENST00000462107.1:c.753_756del	ENSP00000420525.1:p.Arg252ProfsTer25
ENST00000465294.5:n.758_761del
ENST00000473374.5:n.203_206del
ENST00000473571.1:n.207_210del
ENST00000475011.1:n.282_285del
ENST00000476304.5:n.374_377del
ENST00000490084.5:c.8_11del
NM_001206855.1:c.240_243del	NP_001193784.1:p.Arg81ProfsTer25
NM_003227.3:c.753_756del	NP_003218.2:p.Arg252ProfsTer25
XM_005250553.3:c.753_756del	XP_005250610.1:p.Arg252ProfsTer25
XM_005250554.3:c.753_756del	XP_005250611.1:p.Arg252ProfsTer25
NM_001206855.2:c.240_243del	NP_001193784.1:p.Arg81ProfsTer25
XM_005250553.4:c.753_756del	XP_005250610.1:p.Arg252ProfsTer25
XM_017012573.1:c.753_756del	XP_016868062.1:p.Arg252ProfsTer25
NM_003227.4:c.753_756del MANE Select	NP_003218.2:p.Arg252ProfsTer25
NM_001206855.3:c.240_243del	NP_001193784.1:p.Arg81ProfsTer25