Canonical Allele Identifier: CA341979
Gene: TFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21367
ClinVar RCV Id: RCV000020540
dbSNP Id: rs80338887
MyVariant Identifiers: chr7:g.100225384del (hg19) chr7:g.100627761del (hg38)
PubMed: PMID:15749661 PMID:20301523
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100627763del , CM000669.2:g.100627763del GRCh38
NC_000007.13:g.100225386del , CM000669.1:g.100225386del GRCh37
NC_000007.12:g.100063322del NCBI36
NG_007989.1:g.18790del

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.1665del MANE Select ENSP00000223051.3:p.Ser556AlafsTer6
ENST00000223051.7:c.1665del ENSP00000223051.3:p.Ser556AlafsTer6
ENST00000431692.5:c.*340del ENSP00000413905.1:n.*340del
ENST00000462090.5:n.616del
ENST00000462107.1:c.1665del ENSP00000420525.1:p.Ser556AlafsTer6
ENST00000465294.5:n.1500del
ENST00000473374.5:n.738del
ENST00000473963.1:n.694del
ENST00000476304.5:n.1286del
ENST00000490084.5:c.1018del
NM_001206855.1:c.1152del NP_001193784.1:p.Ser385AlafsTer6
NM_003227.3:c.1665del NP_003218.2:p.Ser556AlafsTer6
XM_005250553.3:c.1665del XP_005250610.1:p.Ser556AlafsTer6
XM_005250554.3:c.1665del XP_005250611.1:p.Ser556AlafsTer6
XR_927814.1:n.434-3393del
NM_001206855.2:c.1152del NP_001193784.1:p.Ser385AlafsTer6
XM_005250553.4:c.1665del XP_005250610.1:p.Ser556AlafsTer6
XM_017012573.1:c.1665del XP_016868062.1:p.Ser556AlafsTer6
NM_003227.4:c.1665del MANE Select NP_003218.2:p.Ser556AlafsTer6
NM_001206855.3:c.1152del NP_001193784.1:p.Ser385AlafsTer6
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