Canonical Allele Identifier: CA2684110097

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633530-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633532dup , CM000669.2:g.100633532dup	GRCh38
NC_000007.13:g.100231155dup , CM000669.1:g.100231155dup	GRCh37
NC_000007.12:g.100069091dup	NCBI36
NG_007989.1:g.13020dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.499dup MANE Select	ENSP00000223051.3:p.Ala167GlyfsTer?
ENST00000223051.7:c.499dup	ENSP00000223051.3:p.Ala167GlyfsTer?
ENST00000431692.5:c.499dup	ENSP00000413905.1:p.Ala167GlyfsTer?
ENST00000462107.1:c.499dup	ENSP00000420525.1:p.Ala167GlyfsTer?
ENST00000465294.5:n.504dup
ENST00000475011.1:n.28dup
ENST00000476304.5:n.120dup
NM_001206855.1:c.-15dup	NP_001193784.1:n.-15dup
NM_003227.3:c.499dup	NP_003218.2:p.Ala167GlyfsTer?
XM_005250553.3:c.499dup	XP_005250610.1:p.Ala167GlyfsTer?
XM_005250554.3:c.499dup	XP_005250611.1:p.Ala167GlyfsTer?
NM_001206855.2:c.-15dup	NP_001193784.1:n.-15dup
XM_005250553.4:c.499dup	XP_005250610.1:p.Ala167GlyfsTer?
XM_017012573.1:c.499dup	XP_016868062.1:p.Ala167GlyfsTer?
NM_003227.4:c.499dup MANE Select	NP_003218.2:p.Ala167GlyfsTer?
NM_001206855.3:c.-15dup	NP_001193784.1:n.-15dup