Canonical Allele Identifier: CA576450443
Gene: TFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1075084
dbSNP Id: rs1562837561

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626809_100626810del , CM000669.2:g.100626809_100626810del GRCh38
NC_000007.13:g.100224432_100224433del , CM000669.1:g.100224432_100224433del GRCh37
NC_000007.12:g.100062368_100062369del NCBI36
NG_007989.1:g.19747_19748del

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.2095_2096del MANE Select ENSP00000223051.3:p.Asp699ArgfsTer?
ENST00000223051.7:c.2095_2096del ENSP00000223051.3:p.Asp699ArgfsTer?
ENST00000431692.5:c.*770_*771del ENSP00000413905.1:n.*770_*771del
ENST00000461176.1:n.441_442del
ENST00000462090.5:n.1131_1132del
ENST00000462107.1:c.2095_2096del ENSP00000420525.1:p.Asp699ArgfsTer?
ENST00000465294.5:n.2015_2016del
ENST00000476304.5:n.1716_1717del
ENST00000490084.5:c.1448_1449del
NM_001206855.1:c.1582_1583del NP_001193784.1:p.Asp528ArgfsTer?
NM_003227.3:c.2095_2096del NP_003218.2:p.Asp699ArgfsTer?
XM_005250553.3:c.2095_2096del XP_005250610.1:p.Asp699ArgfsTer?
XM_005250554.3:c.2095_2096del XP_005250611.1:p.Asp699ArgfsTer21
XR_927814.1:n.433+4255_433+4256del
NM_001206855.2:c.1582_1583del NP_001193784.1:p.Asp528ArgfsTer?
XM_005250553.4:c.2095_2096del XP_005250610.1:p.Asp699ArgfsTer?
XM_017012573.1:c.2095_2096del XP_016868062.1:p.Asp699ArgfsTer?
NM_003227.4:c.2095_2096del MANE Select NP_003218.2:p.Asp699ArgfsTer?
NM_001206855.3:c.1582_1583del NP_001193784.1:p.Asp528ArgfsTer?