Canonical Allele Identifier: CA2777155178
Gene: TFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100627693_100627694insGAGCCTCGAACACCAGGATTAGAAGTTTGGATG , CM000669.2:g.100627693_100627694insGAGCCTCGAACACCAGGATTAGAAGTTTGGATG GRCh38
NC_000007.13:g.100225316_100225317insGAGCCTCGAACACCAGGATTAGAAGTTTGGATG , CM000669.1:g.100225316_100225317insGAGCCTCGAACACCAGGATTAGAAGTTTGGATG GRCh37
NC_000007.12:g.100063252_100063253insGAGCCTCGAACACCAGGATTAGAAGTTTGGATG NCBI36
NG_007989.1:g.18858_18859insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC MANE Select ENSP00000223051.3:n.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGT...
ENST00000223051.7:c.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC ENSP00000223051.3:n.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGT...
ENST00000431692.5:c.*358-32_*358-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC ENSP00000413905.1:n.*358-32_*358-31insATCCAAACTTCTAATCCTGGTGT...
ENST00000462090.5:n.634-32_634-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC
ENST00000462107.1:c.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC ENSP00000420525.1:n.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGT...
ENST00000465294.5:n.1518-32_1518-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC
ENST00000473374.5:n.756-32_756-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC
ENST00000473963.1:n.712-32_712-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC
ENST00000476304.5:n.1304-32_1304-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC
ENST00000490084.5:c.1036-32_1036-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC
NM_001206855.1:c.1170-32_1170-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC NP_001193784.1:n.1170-32_1170-31insATCCAAACTTCTAATCCTGGTGTTCG...
NM_003227.3:c.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC NP_003218.2:n.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCGAGG...
XM_005250553.3:c.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC XP_005250610.1:n.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCG...
XM_005250554.3:c.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC XP_005250611.1:n.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCG...
XR_927814.1:n.434-3463_434-3462insGAGCCTCGAACACCAGGATTAGAAGTTTGGATG
NM_001206855.2:c.1170-32_1170-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC NP_001193784.1:n.1170-32_1170-31insATCCAAACTTCTAATCCTGGTGTTCG...
XM_005250553.4:c.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC XP_005250610.1:n.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCG...
XM_017012573.1:c.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC XP_016868062.1:n.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCG...
NM_003227.4:c.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC MANE Select NP_003218.2:n.1683-32_1683-31insATCCAAACTTCTAATCCTGGTGTTCGAGG...
NM_001206855.3:c.1170-32_1170-31insATCCAAACTTCTAATCCTGGTGTTCGAGGCTCC NP_001193784.1:n.1170-32_1170-31insATCCAAACTTCTAATCCTGGTGTTCG...