Canonical Allele Identifier: CA2684106501

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626822-A-AGATCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626823_100626828dup , CM000669.2:g.100626823_100626828dup	GRCh38
NC_000007.13:g.100224446_100224451dup , CM000669.1:g.100224446_100224451dup	GRCh37
NC_000007.12:g.100062382_100062387dup	NCBI36
NG_007989.1:g.19723_19728dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2071_2076dup MANE Select	ENSP00000223051.3:p.Ile692_Tyr693insGluIle
ENST00000223051.7:c.2071_2076dup	ENSP00000223051.3:p.Ile692_Tyr693insGluIle
ENST00000431692.5:c.*746_*751dup	ENSP00000413905.1:n.*746_*751dup
ENST00000461176.1:n.417_422dup
ENST00000462090.5:n.1107_1112dup
ENST00000462107.1:c.2071_2076dup	ENSP00000420525.1:p.Ile692_Tyr693insGluIle
ENST00000465294.5:n.1991_1996dup
ENST00000476304.5:n.1692_1697dup
ENST00000490084.5:c.1424_1429dup
NM_001206855.1:c.1558_1563dup	NP_001193784.1:p.Ile521_Tyr522insGluIle
NM_003227.3:c.2071_2076dup	NP_003218.2:p.Ile692_Tyr693insGluIle
XM_005250553.3:c.2071_2076dup	XP_005250610.1:p.Ile692_Tyr693insGluIle
XM_005250554.3:c.2071_2076dup	XP_005250611.1:p.Ile692_Tyr693insGluIle
XR_927814.1:n.433+4269_433+4274dup
NM_001206855.2:c.1558_1563dup	NP_001193784.1:p.Ile521_Tyr522insGluIle
XM_005250553.4:c.2071_2076dup	XP_005250610.1:p.Ile692_Tyr693insGluIle
XM_017012573.1:c.2071_2076dup	XP_016868062.1:p.Ile692_Tyr693insGluIle
NM_003227.4:c.2071_2076dup MANE Select	NP_003218.2:p.Ile692_Tyr693insGluIle
NM_001206855.3:c.1558_1563dup	NP_001193784.1:p.Ile521_Tyr522insGluIle