Canonical Allele Identifier: CA340409
Gene: TFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 5381
ClinVar RCV Id: RCV000005712 RCV001381389
dbSNP Id: rs80338877
MyVariant Identifiers: chr7:g.100238796_100238797insG (hg19) chr7:g.100641173_100641174insG (hg38)
PubMed: PMID:11313241 PMID:20301523
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100641178dup , CM000669.2:g.100641178dup GRCh38
NC_000007.13:g.100238801dup , CM000669.1:g.100238801dup GRCh37
NC_000007.12:g.100076737dup NCBI36
NG_007989.1:g.5377dup

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.88dup MANE Select ENSP00000223051.3:p.Arg30ProfsTer?
ENST00000223051.7:c.88dup ENSP00000223051.3:p.Arg30ProfsTer?
ENST00000431692.5:c.88dup ENSP00000413905.1:p.Arg30ProfsTer?
ENST00000462107.1:c.88dup ENSP00000420525.1:p.Arg30ProfsTer?
ENST00000465294.5:n.93dup
ENST00000474947.1:n.246dup
NM_003227.3:c.88dup NP_003218.2:p.Arg30ProfsTer?
XM_005250553.3:c.88dup XP_005250610.1:p.Arg30ProfsTer?
XM_005250554.3:c.88dup XP_005250611.1:p.Arg30ProfsTer?
XM_005250553.4:c.88dup XP_005250610.1:p.Arg30ProfsTer?
XM_017012573.1:c.88dup XP_016868062.1:p.Arg30ProfsTer?
NM_003227.4:c.88dup MANE Select NP_003218.2:p.Arg30ProfsTer?
Search 100 bp 5'
Search 100 bp 3'