Canonical Allele Identifier: CA4386719
Gene: TFR2 HGNC NCBI

Linked Data

dbSNP Id: rs767397462

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633102A>G , CM000669.2:g.100633102A>G GRCh38
NC_000007.13:g.100230725A>G , CM000669.1:g.100230725A>G GRCh37
NC_000007.12:g.100068661A>G NCBI36
NG_007989.1:g.13449T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.748T>C MANE Select ENSP00000223051.3:p.Tyr250His
ENST00000223051.7:c.748T>C ENSP00000223051.3:p.Tyr250His
ENST00000431692.5:c.748T>C ENSP00000413905.1:p.Tyr250His
ENST00000462107.1:c.748T>C ENSP00000420525.1:p.Tyr250His
ENST00000465294.5:n.753T>C
ENST00000473374.5:n.198T>C
ENST00000473571.1:n.202T>C
ENST00000475011.1:n.277T>C
ENST00000476304.5:n.369T>C
ENST00000490084.5:c.3T>C
NM_001206855.1:c.235T>C NP_001193784.1:p.Tyr79His
NM_003227.3:c.748T>C NP_003218.2:p.Tyr250His
XM_005250553.3:c.748T>C XP_005250610.1:p.Tyr250His
XM_005250554.3:c.748T>C XP_005250611.1:p.Tyr250His
NM_001206855.2:c.235T>C NP_001193784.1:p.Tyr79His
XM_005250553.4:c.748T>C XP_005250610.1:p.Tyr250His
XM_017012573.1:c.748T>C XP_016868062.1:p.Tyr250His
NM_003227.4:c.748T>C MANE Select NP_003218.2:p.Tyr250His
NM_001206855.3:c.235T>C NP_001193784.1:p.Tyr79His