Canonical Allele Identifier: CA341980
Gene: TFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21369
dbSNP Id: rs2075674

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100627408G>A , CM000669.2:g.100627408G>A GRCh38
NC_000007.13:g.100225031G>A , CM000669.1:g.100225031G>A GRCh37
NC_000007.12:g.100062967G>A NCBI36
NG_007989.1:g.19143C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.1851C>T MANE Select ENSP00000223051.3:p.Ala617=
ENST00000223051.7:c.1851C>T ENSP00000223051.3:p.Ala617=
ENST00000431692.5:c.*526C>T ENSP00000413905.1:p.=
ENST00000461176.1:n.197C>T
ENST00000462090.5:n.887C>T
ENST00000462107.1:c.1851C>T ENSP00000420525.1:p.Ala617=
ENST00000465294.5:n.1771C>T
ENST00000476304.5:n.1472C>T
ENST00000490084.5:n.1204C>T
NM_001206855.1:c.1338C>T NP_001193784.1:p.Ala446=
NM_003227.3:c.1851C>T NP_003218.2:p.Ala617=
XM_005250553.3:c.1851C>T XP_005250610.1:p.Ala617=
XM_005250554.3:c.1851C>T XP_005250611.1:p.Ala617=
XR_927814.1:n.434-3748G>A
NM_001206855.2:c.1338C>T NP_001193784.1:p.Ala446=
XM_005250553.4:c.1851C>T XP_005250610.1:p.Ala617=
XM_017012573.1:c.1851C>T XP_016868062.1:p.Ala617=
NM_003227.4:c.1851C>T MANE Select NP_003218.2:p.Ala617=
NM_001206855.3:c.1338C>T NP_001193784.1:p.Ala446=