Canonical Allele Identifier: CA2684106902

Gene: TFR2

Linked Data

• gnomAD v4: 7-100627741-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627742dup , CM000669.2:g.100627742dup	GRCh38
NC_000007.13:g.100225365dup , CM000669.1:g.100225365dup	GRCh37
NC_000007.12:g.100063301dup	NCBI36
NG_007989.1:g.18809dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1682+2dup MANE Select	ENSP00000223051.3:n.1682+2dup
ENST00000223051.7:c.1682+2dup	ENSP00000223051.3:n.1682+2dup
ENST00000431692.5:c.*357+2dup	ENSP00000413905.1:n.*357+2dup
ENST00000462090.5:n.633+2dup
ENST00000462107.1:c.1682+2dup	ENSP00000420525.1:n.1682+2dup
ENST00000465294.5:n.1517+2dup
ENST00000473374.5:n.755+2dup
ENST00000473963.1:n.711+2dup
ENST00000476304.5:n.1303+2dup
ENST00000490084.5:c.1035+2dup
NM_001206855.1:c.1169+2dup	NP_001193784.1:n.1169+2dup
NM_003227.3:c.1682+2dup	NP_003218.2:n.1682+2dup
XM_005250553.3:c.1682+2dup	XP_005250610.1:n.1682+2dup
XM_005250554.3:c.1682+2dup	XP_005250611.1:n.1682+2dup
XR_927814.1:n.434-3414dup
NM_001206855.2:c.1169+2dup	NP_001193784.1:n.1169+2dup
XM_005250553.4:c.1682+2dup	XP_005250610.1:n.1682+2dup
XM_017012573.1:c.1682+2dup	XP_016868062.1:n.1682+2dup
NM_003227.4:c.1682+2dup MANE Select	NP_003218.2:n.1682+2dup
NM_001206855.3:c.1169+2dup	NP_001193784.1:n.1169+2dup