Canonical Allele Identifier: CA2777154268
Gene: TFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100620596del , CM000669.2:g.100620596del GRCh38
NC_000007.13:g.100218219del , CM000669.1:g.100218219del GRCh37
NC_000007.12:g.100056155del NCBI36
NG_007989.1:g.25958del

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.*264del MANE Select ENSP00000223051.3:n.*264del
ENST00000223051.7:c.*264del ENSP00000223051.3:n.*264del
ENST00000431692.5:c.*1345del ENSP00000413905.1:n.*1345del
ENST00000462090.5:n.1706del
ENST00000462107.1:c.*264del ENSP00000420525.1:n.*264del
ENST00000465294.5:n.2590del
ENST00000476304.5:n.2291del
ENST00000490084.5:c.2023del
NM_001206855.1:c.*264del NP_001193784.1:n.*264del
NM_003227.3:c.*264del NP_003218.2:n.*264del
XM_005250553.3:c.*264del XP_005250610.1:n.*264del
NM_001206855.2:c.*264del NP_001193784.1:n.*264del
XM_005250553.4:c.*264del XP_005250610.1:n.*264del
XM_017012573.1:c.*264del XP_016868062.1:n.*264del
NM_003227.4:c.*264del MANE Select NP_003218.2:n.*264del
NM_001206855.3:c.*264del NP_001193784.1:n.*264del