Canonical Allele Identifier: CA2497214300

Gene: TFR2

Linked Data

• dbSNP Id: rs1803274119
• gnomAD v4: 7-100626889-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626890_100626891del , CM000669.2:g.100626890_100626891del	GRCh38
NC_000007.13:g.100224513_100224514del , CM000669.1:g.100224513_100224514del	GRCh37
NC_000007.12:g.100062449_100062450del	NCBI36
NG_007989.1:g.19660_19661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2008_2009del MANE Select	ENSP00000223051.3:p.Thr670ProfsTer?
ENST00000223051.7:c.2008_2009del	ENSP00000223051.3:p.Thr670ProfsTer?
ENST00000431692.5:c.*683_*684del	ENSP00000413905.1:n.*683_*684del
ENST00000461176.1:n.354_355del
ENST00000462090.5:n.1044_1045del
ENST00000462107.1:c.2008_2009del	ENSP00000420525.1:p.Thr670ProfsTer?
ENST00000465294.5:n.1928_1929del
ENST00000476304.5:n.1629_1630del
ENST00000490084.5:c.1361_1362del
NM_001206855.1:c.1495_1496del	NP_001193784.1:p.Thr499ProfsTer?
NM_003227.3:c.2008_2009del	NP_003218.2:p.Thr670ProfsTer?
XM_005250553.3:c.2008_2009del	XP_005250610.1:p.Thr670ProfsTer?
XM_005250554.3:c.2008_2009del	XP_005250611.1:p.Thr670ProfsTer?
XR_927814.1:n.434-4266_434-4265del
NM_001206855.2:c.1495_1496del	NP_001193784.1:p.Thr499ProfsTer?
XM_005250553.4:c.2008_2009del	XP_005250610.1:p.Thr670ProfsTer?
XM_017012573.1:c.2008_2009del	XP_016868062.1:p.Thr670ProfsTer?
NM_003227.4:c.2008_2009del MANE Select	NP_003218.2:p.Thr670ProfsTer?
NM_001206855.3:c.1495_1496del	NP_001193784.1:p.Thr499ProfsTer?