Canonical Allele Identifier: CA4386697
Gene: TFR2 HGNC NCBI

Linked Data

dbSNP Id: rs767833407

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633002_100633034dup , CM000669.2:g.100633002_100633034dup GRCh38
NC_000007.13:g.100230625_100230657dup , CM000669.1:g.100230625_100230657dup GRCh37
NC_000007.12:g.100068561_100068593dup NCBI36
NG_007989.1:g.13520_13552dup

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.819_849+2dup
ENST00000223051.7:c.819_849+2dup
ENST00000431692.5:c.819_849+2dup
ENST00000462090.5:n.60_90+2dup
ENST00000462107.1:c.819_849+2dup
ENST00000465294.5:n.824_854+2dup
ENST00000473374.5:n.269_299+2dup
ENST00000473571.1:n.273_303+2dup
ENST00000475011.1:n.348_380dup
ENST00000476304.5:n.440_470+2dup
ENST00000490084.5:c.74_104+2dup
NM_001206855.1:c.306_336+2dup
NM_003227.3:c.819_849+2dup
XM_005250553.3:c.819_849+2dup
XM_005250554.3:c.819_849+2dup
NM_001206855.2:c.306_336+2dup
XM_005250553.4:c.819_849+2dup
XM_017012573.1:c.819_849+2dup
NM_003227.4:c.819_849+2dup
NM_001206855.3:c.306_336+2dup