Canonical Allele Identifier: CA918086085
Gene: TFR2 HGNC NCBI

Linked Data

dbSNP Id: rs1554361253

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626766delinsTCT , CM000669.2:g.100626766delinsTCT GRCh38
NC_000007.13:g.100224389delinsTCT , CM000669.1:g.100224389delinsTCT GRCh37
NC_000007.12:g.100062325delinsTCT NCBI36
NG_007989.1:g.19785delinsAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.2133delinsAGA MANE Select ENSP00000223051.3:p.Met711IlefsTer?
ENST00000223051.7:c.2133delinsAGA ENSP00000223051.3:p.Met711IlefsTer?
ENST00000431692.5:c.*808delinsAGA ENSP00000413905.1:n.*808delinsAGA
ENST00000461176.1:n.479delinsAGA
ENST00000462090.5:n.1169delinsAGA
ENST00000462107.1:c.2133delinsAGA ENSP00000420525.1:p.Met711IlefsTer?
ENST00000465294.5:n.2053delinsAGA
ENST00000476304.5:n.1754delinsAGA
ENST00000490084.5:c.1486delinsAGA
NM_001206855.1:c.1620delinsAGA NP_001193784.1:p.Met540IlefsTer?
NM_003227.3:c.2133delinsAGA NP_003218.2:p.Met711IlefsTer?
XM_005250553.3:c.2133delinsAGA XP_005250610.1:p.Met711IlefsTer?
XM_005250554.3:c.2133delinsAGA XP_005250611.1:p.Met711IlefsTer?
XR_927814.1:n.433+4212delinsTCT
NM_001206855.2:c.1620delinsAGA NP_001193784.1:p.Met540IlefsTer?
XM_005250553.4:c.2133delinsAGA XP_005250610.1:p.Met711IlefsTer?
XM_017012573.1:c.2133delinsAGA XP_016868062.1:p.Met711IlefsTer?
NM_003227.4:c.2133delinsAGA MANE Select NP_003218.2:p.Met711IlefsTer?
NM_001206855.3:c.1620delinsAGA NP_001193784.1:p.Met540IlefsTer?