Canonical Allele Identifier: CA334185
Gene: TFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 188153
ClinVar RCV Id: RCV000168040
dbSNP Id: rs786204108

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626866C>G , CM000669.2:g.100626866C>G GRCh38
NC_000007.13:g.100224489C>G , CM000669.1:g.100224489C>G GRCh37
NC_000007.12:g.100062425C>G NCBI36
NG_007989.1:g.19685G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.2033G>C MANE Select ENSP00000223051.3:p.Arg678Pro
ENST00000223051.7:c.2033G>C ENSP00000223051.3:p.Arg678Pro
ENST00000431692.5:c.*708G>C ENSP00000413905.1:p.=
ENST00000461176.1:n.379G>C
ENST00000462090.5:n.1069G>C
ENST00000462107.1:c.2033G>C ENSP00000420525.1:p.Arg678Pro
ENST00000465294.5:n.1953G>C
ENST00000476304.5:n.1654G>C
ENST00000490084.5:n.1386G>C
NM_001206855.1:c.1520G>C NP_001193784.1:p.Arg507Pro
NM_003227.3:c.2033G>C NP_003218.2:p.Arg678Pro
XM_005250553.3:c.2033G>C XP_005250610.1:p.Arg678Pro
XM_005250554.3:c.2033G>C XP_005250611.1:p.Arg678Pro
XR_927814.1:n.434-4290C>G
NM_001206855.2:c.1520G>C NP_001193784.1:p.Arg507Pro
XM_005250553.4:c.2033G>C XP_005250610.1:p.Arg678Pro
XM_017012573.1:c.2033G>C XP_016868062.1:p.Arg678Pro
NM_003227.4:c.2033G>C MANE Select NP_003218.2:p.Arg678Pro
NM_001206855.3:c.1520G>C NP_001193784.1:p.Arg507Pro