Canonical Allele Identifier: CA341975
Gene: TFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21364
ClinVar RCV Id: RCV000020536
dbSNP Id: rs80338884

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100629313C>T , CM000669.2:g.100629313C>T GRCh38
NC_000007.13:g.100226936C>T , CM000669.1:g.100226936C>T GRCh37
NC_000007.12:g.100064872C>T NCBI36
NG_007989.1:g.17238G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.1330G>A MANE Select ENSP00000223051.3:p.Ala444Thr
ENST00000223051.7:c.1330G>A ENSP00000223051.3:p.Ala444Thr
ENST00000431692.5:c.*5G>A ENSP00000413905.1:n.*5G>A
ENST00000462090.5:n.255-1007G>A
ENST00000462107.1:c.1330G>A ENSP00000420525.1:p.Ala444Thr
ENST00000465294.5:n.1078G>A
ENST00000473374.5:n.464-1007G>A
ENST00000473963.1:n.420-1007G>A
ENST00000476304.5:n.951G>A
ENST00000490084.5:c.683G>A
NM_001206855.1:c.817G>A NP_001193784.1:p.Ala273Thr
NM_003227.3:c.1330G>A NP_003218.2:p.Ala444Thr
XM_005250553.3:c.1330G>A XP_005250610.1:p.Ala444Thr
XM_005250554.3:c.1330G>A XP_005250611.1:p.Ala444Thr
XR_927814.1:n.434-1843C>T
NM_001206855.2:c.817G>A NP_001193784.1:p.Ala273Thr
XM_005250553.4:c.1330G>A XP_005250610.1:p.Ala444Thr
XM_017012573.1:c.1330G>A XP_016868062.1:p.Ala444Thr
NM_003227.4:c.1330G>A MANE Select NP_003218.2:p.Ala444Thr
NM_001206855.3:c.817G>A NP_001193784.1:p.Ala273Thr