Canonical Allele Identifier: CA2578963316

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626823del , CM000669.2:g.100626823del	GRCh38
NC_000007.13:g.100224446del , CM000669.1:g.100224446del	GRCh37
NC_000007.12:g.100062382del	NCBI36
NG_007989.1:g.19728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2076del MANE Select	ENSP00000223051.3:p.Tyr693ThrfsTer10
ENST00000223051.7:c.2076del	ENSP00000223051.3:p.Tyr693ThrfsTer10
ENST00000431692.5:c.*751del	ENSP00000413905.1:n.*751del
ENST00000461176.1:n.422del
ENST00000462090.5:n.1112del
ENST00000462107.1:c.2076del	ENSP00000420525.1:p.Tyr693ThrfsTer10
ENST00000465294.5:n.1996del
ENST00000476304.5:n.1697del
ENST00000490084.5:c.1429del
NM_001206855.1:c.1563del	NP_001193784.1:p.Tyr522ThrfsTer10
NM_003227.3:c.2076del	NP_003218.2:p.Tyr693ThrfsTer10
XM_005250553.3:c.2076del	XP_005250610.1:p.Tyr693ThrfsTer10
XM_005250554.3:c.2076del	XP_005250611.1:p.Tyr693ThrfsTer10
XR_927814.1:n.433+4269del
NM_001206855.2:c.1563del	NP_001193784.1:p.Tyr522ThrfsTer10
XM_005250553.4:c.2076del	XP_005250610.1:p.Tyr693ThrfsTer10
XM_017012573.1:c.2076del	XP_016868062.1:p.Tyr693ThrfsTer10
NM_003227.4:c.2076del MANE Select	NP_003218.2:p.Tyr693ThrfsTer10
NM_001206855.3:c.1563del	NP_001193784.1:p.Tyr522ThrfsTer10