Canonical Allele Identifier: CA2684106544

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626944-C-CATGACCCCCGCCTAGCATGGGGACA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626945_100626946insTGACCCCCGCCTAGCATGGGGACAA , CM000669.2:g.100626945_100626946insTGACCCCCGCCTAGCATGGGGACAA	GRCh38
NC_000007.13:g.100224568_100224569insTGACCCCCGCCTAGCATGGGGACAA , CM000669.1:g.100224568_100224569insTGACCCCCGCCTAGCATGGGGACAA	GRCh37
NC_000007.12:g.100062504_100062505insTGACCCCCGCCTAGCATGGGGACAA	NCBI36
NG_007989.1:g.19606_19607insTGTCCCCATGCTAGGCGGGGGTCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT MANE Select	ENSP00000223051.3:n.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTC...
ENST00000223051.7:c.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT	ENSP00000223051.3:n.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTC...
ENST00000431692.5:c.*671-42_*671-41insTGTCCCCATGCTAGGCGGGGGTCAT	ENSP00000413905.1:n.*671-42_*671-41insTGTCCCCATGCTAGGCGGGGGTC...
ENST00000461176.1:n.342-42_342-41insTGTCCCCATGCTAGGCGGGGGTCAT
ENST00000462090.5:n.1032-42_1032-41insTGTCCCCATGCTAGGCGGGGGTCAT
ENST00000462107.1:c.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT	ENSP00000420525.1:n.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTC...
ENST00000465294.5:n.1916-42_1916-41insTGTCCCCATGCTAGGCGGGGGTCAT
ENST00000476304.5:n.1617-42_1617-41insTGTCCCCATGCTAGGCGGGGGTCAT
ENST00000490084.5:c.1349-42_1349-41insTGTCCCCATGCTAGGCGGGGGTCAT
NM_001206855.1:c.1483-42_1483-41insTGTCCCCATGCTAGGCGGGGGTCAT	NP_001193784.1:n.1483-42_1483-41insTGTCCCCATGCTAGGCGGGGGTCAT
NM_003227.3:c.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT	NP_003218.2:n.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT
XM_005250553.3:c.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT	XP_005250610.1:n.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT
XM_005250554.3:c.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT	XP_005250611.1:n.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT
XR_927814.1:n.434-4211_434-4210insTGACCCCCGCCTAGCATGGGGACAA
NM_001206855.2:c.1483-42_1483-41insTGTCCCCATGCTAGGCGGGGGTCAT	NP_001193784.1:n.1483-42_1483-41insTGTCCCCATGCTAGGCGGGGGTCAT
XM_005250553.4:c.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT	XP_005250610.1:n.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT
XM_017012573.1:c.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT	XP_016868062.1:n.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT
NM_003227.4:c.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT MANE Select	NP_003218.2:n.1996-42_1996-41insTGTCCCCATGCTAGGCGGGGGTCAT
NM_001206855.3:c.1483-42_1483-41insTGTCCCCATGCTAGGCGGGGGTCAT	NP_001193784.1:n.1483-42_1483-41insTGTCCCCATGCTAGGCGGGGGTCAT