Canonical Allele Identifier: CA2684109321

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633102-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633104_100633105del , CM000669.2:g.100633104_100633105del	GRCh38
NC_000007.13:g.100230727_100230728del , CM000669.1:g.100230727_100230728del	GRCh37
NC_000007.12:g.100068663_100068664del	NCBI36
NG_007989.1:g.13447_13448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.746_747del MANE Select	ENSP00000223051.3:p.His249LeufsTer?
ENST00000223051.7:c.746_747del	ENSP00000223051.3:p.His249LeufsTer?
ENST00000431692.5:c.746_747del	ENSP00000413905.1:p.His249LeufsTer?
ENST00000462107.1:c.746_747del	ENSP00000420525.1:p.His249LeufsTer?
ENST00000465294.5:n.751_752del
ENST00000473374.5:n.196_197del
ENST00000473571.1:n.200_201del
ENST00000475011.1:n.275_276del
ENST00000476304.5:n.367_368del
NM_001206855.1:c.233_234del	NP_001193784.1:p.His78LeufsTer?
NM_003227.3:c.746_747del	NP_003218.2:p.His249LeufsTer?
XM_005250553.3:c.746_747del	XP_005250610.1:p.His249LeufsTer?
XM_005250554.3:c.746_747del	XP_005250611.1:p.His249LeufsTer?
NM_001206855.2:c.233_234del	NP_001193784.1:p.His78LeufsTer?
XM_005250553.4:c.746_747del	XP_005250610.1:p.His249LeufsTer?
XM_017012573.1:c.746_747del	XP_016868062.1:p.His249LeufsTer?
NM_003227.4:c.746_747del MANE Select	NP_003218.2:p.His249LeufsTer?
NM_001206855.3:c.233_234del	NP_001193784.1:p.His78LeufsTer?