Canonical Allele Identifier: CA2684106643

Gene: TFR2

Linked Data

• gnomAD v4: 7-100627014-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627015dup , CM000669.2:g.100627015dup	GRCh38
NC_000007.13:g.100224638dup , CM000669.1:g.100224638dup	GRCh37
NC_000007.12:g.100062574dup	NCBI36
NG_007989.1:g.19536dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1996-112dup MANE Select	ENSP00000223051.3:n.1996-112dup
ENST00000223051.7:c.1996-112dup	ENSP00000223051.3:n.1996-112dup
ENST00000431692.5:c.*671-112dup	ENSP00000413905.1:n.*671-112dup
ENST00000461176.1:n.342-112dup
ENST00000462090.5:n.1032-112dup
ENST00000462107.1:c.1996-112dup	ENSP00000420525.1:n.1996-112dup
ENST00000465294.5:n.1916-112dup
ENST00000476304.5:n.1617-112dup
ENST00000490084.5:c.1349-112dup
NM_001206855.1:c.1483-112dup	NP_001193784.1:n.1483-112dup
NM_003227.3:c.1996-112dup	NP_003218.2:n.1996-112dup
XM_005250553.3:c.1996-112dup	XP_005250610.1:n.1996-112dup
XM_005250554.3:c.1996-112dup	XP_005250611.1:n.1996-112dup
XR_927814.1:n.434-4141dup
NM_001206855.2:c.1483-112dup	NP_001193784.1:n.1483-112dup
XM_005250553.4:c.1996-112dup	XP_005250610.1:n.1996-112dup
XM_017012573.1:c.1996-112dup	XP_016868062.1:n.1996-112dup
NM_003227.4:c.1996-112dup MANE Select	NP_003218.2:n.1996-112dup
NM_001206855.3:c.1483-112dup	NP_001193784.1:n.1483-112dup