Canonical Allele Identifier: CA2497214367

Gene: TFR2

Linked Data

• dbSNP Id: rs1803495372
• gnomAD v4: 7-100633071-C-CGCAGGTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633079_100633087dup , CM000669.2:g.100633079_100633087dup	GRCh38
NC_000007.13:g.100230702_100230710dup , CM000669.1:g.100230702_100230710dup	GRCh37
NC_000007.12:g.100068638_100068646dup	NCBI36
NG_007989.1:g.13471_13479dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.770_778dup MANE Select	ENSP00000223051.3:p.Leu259_Arg260insGlnAspLeu
ENST00000223051.7:c.770_778dup	ENSP00000223051.3:p.Leu259_Arg260insGlnAspLeu
ENST00000431692.5:c.770_778dup	ENSP00000413905.1:p.Leu259_Arg260insGlnAspLeu
ENST00000462090.5:n.11_19dup
ENST00000462107.1:c.770_778dup	ENSP00000420525.1:p.Leu259_Arg260insGlnAspLeu
ENST00000465294.5:n.775_783dup
ENST00000473374.5:n.220_228dup
ENST00000473571.1:n.224_232dup
ENST00000475011.1:n.299_307dup
ENST00000476304.5:n.391_399dup
ENST00000490084.5:c.25_33dup
NM_001206855.1:c.257_265dup	NP_001193784.1:p.Leu88_Arg89insGlnAspLeu
NM_003227.3:c.770_778dup	NP_003218.2:p.Leu259_Arg260insGlnAspLeu
XM_005250553.3:c.770_778dup	XP_005250610.1:p.Leu259_Arg260insGlnAspLeu
XM_005250554.3:c.770_778dup	XP_005250611.1:p.Leu259_Arg260insGlnAspLeu
NM_001206855.2:c.257_265dup	NP_001193784.1:p.Leu88_Arg89insGlnAspLeu
XM_005250553.4:c.770_778dup	XP_005250610.1:p.Leu259_Arg260insGlnAspLeu
XM_017012573.1:c.770_778dup	XP_016868062.1:p.Leu259_Arg260insGlnAspLeu
NM_003227.4:c.770_778dup MANE Select	NP_003218.2:p.Leu259_Arg260insGlnAspLeu
NM_001206855.3:c.257_265dup	NP_001193784.1:p.Leu88_Arg89insGlnAspLeu