Canonical Allele Identifier: CA4386225
Gene: TFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1013964
dbSNP Id: rs765525964

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626845G>A , CM000669.2:g.100626845G>A GRCh38
NC_000007.13:g.100224468G>A , CM000669.1:g.100224468G>A GRCh37
NC_000007.12:g.100062404G>A NCBI36
NG_007989.1:g.19706C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.2054C>T MANE Select ENSP00000223051.3:p.Ala685Val
ENST00000223051.7:c.2054C>T ENSP00000223051.3:p.Ala685Val
ENST00000431692.5:c.*729C>T ENSP00000413905.1:n.*729C>T
ENST00000461176.1:n.400C>T
ENST00000462090.5:n.1090C>T
ENST00000462107.1:c.2054C>T ENSP00000420525.1:p.Ala685Val
ENST00000465294.5:n.1974C>T
ENST00000476304.5:n.1675C>T
ENST00000490084.5:c.1407C>T
NM_001206855.1:c.1541C>T NP_001193784.1:p.Ala514Val
NM_003227.3:c.2054C>T NP_003218.2:p.Ala685Val
XM_005250553.3:c.2054C>T XP_005250610.1:p.Ala685Val
XM_005250554.3:c.2054C>T XP_005250611.1:p.Ala685Val
XR_927814.1:n.433+4291G>A
NM_001206855.2:c.1541C>T NP_001193784.1:p.Ala514Val
XM_005250553.4:c.2054C>T XP_005250610.1:p.Ala685Val
XM_017012573.1:c.2054C>T XP_016868062.1:p.Ala685Val
NM_003227.4:c.2054C>T MANE Select NP_003218.2:p.Ala685Val
NM_001206855.3:c.1541C>T NP_001193784.1:p.Ala514Val