Canonical Allele Identifier: CA2684105764

Gene: TFR2

Linked Data

• gnomAD v4: 7-100620634-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620636dup , CM000669.2:g.100620636dup	GRCh38
NC_000007.13:g.100218259dup , CM000669.1:g.100218259dup	GRCh37
NC_000007.12:g.100056195dup	NCBI36
NG_007989.1:g.25916dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*222dup MANE Select	ENSP00000223051.3:n.*222dup
ENST00000223051.7:c.*222dup	ENSP00000223051.3:n.*222dup
ENST00000431692.5:c.*1303dup	ENSP00000413905.1:n.*1303dup
ENST00000462090.5:n.1664dup
ENST00000462107.1:c.*222dup	ENSP00000420525.1:n.*222dup
ENST00000465294.5:n.2548dup
ENST00000476304.5:n.2249dup
ENST00000490084.5:c.1981dup
NM_001206855.1:c.*222dup	NP_001193784.1:n.*222dup
NM_003227.3:c.*222dup	NP_003218.2:n.*222dup
XM_005250553.3:c.*222dup	XP_005250610.1:n.*222dup
NM_001206855.2:c.*222dup	NP_001193784.1:n.*222dup
XM_005250553.4:c.*222dup	XP_005250610.1:n.*222dup
XM_017012573.1:c.*222dup	XP_016868062.1:n.*222dup
NM_003227.4:c.*222dup MANE Select	NP_003218.2:n.*222dup
NM_001206855.3:c.*222dup	NP_001193784.1:n.*222dup