Canonical Allele Identifier: CA2578963365

Gene: TFR2

Linked Data

• gnomAD v4: 7-100627736-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627738dup , CM000669.2:g.100627738dup	GRCh38
NC_000007.13:g.100225361dup , CM000669.1:g.100225361dup	GRCh37
NC_000007.12:g.100063297dup	NCBI36
NG_007989.1:g.18814dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1682+7dup MANE Select	ENSP00000223051.3:n.1682+7dup
ENST00000223051.7:c.1682+7dup	ENSP00000223051.3:n.1682+7dup
ENST00000431692.5:c.*357+7dup	ENSP00000413905.1:n.*357+7dup
ENST00000462090.5:n.633+7dup
ENST00000462107.1:c.1682+7dup	ENSP00000420525.1:n.1682+7dup
ENST00000465294.5:n.1517+7dup
ENST00000473374.5:n.755+7dup
ENST00000473963.1:n.711+7dup
ENST00000476304.5:n.1303+7dup
ENST00000490084.5:c.1035+7dup
NM_001206855.1:c.1169+7dup	NP_001193784.1:n.1169+7dup
NM_003227.3:c.1682+7dup	NP_003218.2:n.1682+7dup
XM_005250553.3:c.1682+7dup	XP_005250610.1:n.1682+7dup
XM_005250554.3:c.1682+7dup	XP_005250611.1:n.1682+7dup
XR_927814.1:n.434-3418dup
NM_001206855.2:c.1169+7dup	NP_001193784.1:n.1169+7dup
XM_005250553.4:c.1682+7dup	XP_005250610.1:n.1682+7dup
XM_017012573.1:c.1682+7dup	XP_016868062.1:n.1682+7dup
NM_003227.4:c.1682+7dup MANE Select	NP_003218.2:n.1682+7dup
NM_001206855.3:c.1169+7dup	NP_001193784.1:n.1169+7dup