Canonical Allele Identifier: CA2570747463
Gene: TFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633001del , CM000669.2:g.100633001del GRCh38
NC_000007.13:g.100230624del , CM000669.1:g.100230624del GRCh37
NC_000007.12:g.100068560del NCBI36
NG_007989.1:g.13551del

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.849+1del
ENST00000223051.7:c.849+1del
ENST00000431692.5:c.849+1del
ENST00000462090.5:n.90+1del
ENST00000462107.1:c.849+1del
ENST00000465294.5:n.854+1del
ENST00000473374.5:n.299+1del
ENST00000473571.1:n.303+1del
ENST00000475011.1:n.379del
ENST00000476304.5:n.470+1del
ENST00000490084.5:c.104+1del
NM_001206855.1:c.336+1del
NM_003227.3:c.849+1del
XM_005250553.3:c.849+1del
XM_005250554.3:c.849+1del
XR_927814.1:n.582del
NM_001206855.2:c.336+1del
XM_005250553.4:c.849+1del
XM_017012573.1:c.849+1del
NM_003227.4:c.849+1del
NM_001206855.3:c.336+1del