Canonical Allele Identifier: CA2497214299

Gene: TFR2

Linked Data

• dbSNP Id: rs1803270621

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626842dup , CM000669.2:g.100626842dup	GRCh38
NC_000007.13:g.100224465dup , CM000669.1:g.100224465dup	GRCh37
NC_000007.12:g.100062401dup	NCBI36
NG_007989.1:g.19712dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2060dup MANE Select	ENSP00000223051.3:p.Leu688AlafsTer?
ENST00000223051.7:c.2060dup	ENSP00000223051.3:p.Leu688AlafsTer?
ENST00000431692.5:c.*735dup	ENSP00000413905.1:n.*735dup
ENST00000461176.1:n.406dup
ENST00000462090.5:n.1096dup
ENST00000462107.1:c.2060dup	ENSP00000420525.1:p.Leu688AlafsTer?
ENST00000465294.5:n.1980dup
ENST00000476304.5:n.1681dup
ENST00000490084.5:c.1413dup
NM_001206855.1:c.1547dup	NP_001193784.1:p.Leu517AlafsTer?
NM_003227.3:c.2060dup	NP_003218.2:p.Leu688AlafsTer?
XM_005250553.3:c.2060dup	XP_005250610.1:p.Leu688AlafsTer?
XM_005250554.3:c.2060dup	XP_005250611.1:p.Leu688AlafsTer?
XR_927814.1:n.433+4288dup
NM_001206855.2:c.1547dup	NP_001193784.1:p.Leu517AlafsTer?
XM_005250553.4:c.2060dup	XP_005250610.1:p.Leu688AlafsTer?
XM_017012573.1:c.2060dup	XP_016868062.1:p.Leu688AlafsTer?
NM_003227.4:c.2060dup MANE Select	NP_003218.2:p.Leu688AlafsTer?
NM_001206855.3:c.1547dup	NP_001193784.1:p.Leu517AlafsTer?