Canonical Allele Identifier: CA1105041731

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2143093
• ClinVar RCV Id: RCV003051332 ; RCV003475501
• dbSNP Id: rs1803510959
• gnomAD v3: 7-100633505-CAG-C
• gnomAD v4: 7-100633505-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633508_100633509del , CM000669.2:g.100633508_100633509del	GRCh38
NC_000007.13:g.100231131_100231132del , CM000669.1:g.100231131_100231132del	GRCh37
NC_000007.12:g.100069067_100069068del	NCBI36
NG_007989.1:g.13044_13045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.523_524del MANE Select	ENSP00000223051.3:p.Leu175AspfsTer?
ENST00000223051.7:c.523_524del	ENSP00000223051.3:p.Leu175AspfsTer?
ENST00000431692.5:c.523_524del	ENSP00000413905.1:p.Leu175AspfsTer?
ENST00000462107.1:c.523_524del	ENSP00000420525.1:p.Leu175AspfsTer?
ENST00000465294.5:n.528_529del
ENST00000475011.1:n.52_53del
ENST00000476304.5:n.144_145del
NM_001206855.1:c.10_11del	NP_001193784.1:p.Leu4AspfsTer?
NM_003227.3:c.523_524del	NP_003218.2:p.Leu175AspfsTer?
XM_005250553.3:c.523_524del	XP_005250610.1:p.Leu175AspfsTer?
XM_005250554.3:c.523_524del	XP_005250611.1:p.Leu175AspfsTer?
NM_001206855.2:c.10_11del	NP_001193784.1:p.Leu4AspfsTer?
XM_005250553.4:c.523_524del	XP_005250610.1:p.Leu175AspfsTer?
XM_017012573.1:c.523_524del	XP_016868062.1:p.Leu175AspfsTer?
NM_003227.4:c.523_524del MANE Select	NP_003218.2:p.Leu175AspfsTer?
NM_001206855.3:c.10_11del	NP_001193784.1:p.Leu4AspfsTer?