Canonical Allele Identifier: CA2573141351

Gene: TFR2

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633107del , CM000669.2:g.100633107del	GRCh38
NC_000007.13:g.100230730del , CM000669.1:g.100230730del	GRCh37
NC_000007.12:g.100068666del	NCBI36
NG_007989.1:g.13446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.745del MANE Select	ENSP00000223051.3:p.His249ThrfsTer29
ENST00000223051.7:c.745del	ENSP00000223051.3:p.His249ThrfsTer29
ENST00000431692.5:c.745del	ENSP00000413905.1:p.His249ThrfsTer29
ENST00000462107.1:c.745del	ENSP00000420525.1:p.His249ThrfsTer29
ENST00000465294.5:n.750del
ENST00000473374.5:n.195del
ENST00000473571.1:n.199del
ENST00000475011.1:n.274del
ENST00000476304.5:n.366del
NM_001206855.1:c.232del	NP_001193784.1:p.His78ThrfsTer29
NM_003227.3:c.745del	NP_003218.2:p.His249ThrfsTer29
XM_005250553.3:c.745del	XP_005250610.1:p.His249ThrfsTer29
XM_005250554.3:c.745del	XP_005250611.1:p.His249ThrfsTer29
NM_001206855.2:c.232del	NP_001193784.1:p.His78ThrfsTer29
XM_005250553.4:c.745del	XP_005250610.1:p.His249ThrfsTer29
XM_017012573.1:c.745del	XP_016868062.1:p.His249ThrfsTer29
NM_003227.4:c.745del MANE Select	NP_003218.2:p.His249ThrfsTer29
NM_001206855.3:c.232del	NP_001193784.1:p.His78ThrfsTer29