Canonical Allele Identifier: CA1105065223
Gene: TFR2 HGNC NCBI

Linked Data

dbSNP Id: rs1803260841

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626728_100626741del , CM000669.2:g.100626728_100626741del GRCh38
NC_000007.13:g.100224351_100224364del , CM000669.1:g.100224351_100224364del GRCh37
NC_000007.12:g.100062287_100062300del NCBI36
NG_007989.1:g.19818_19831del

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.2136+30_2136+43del MANE Select ENSP00000223051.3:n.2136+30_2136+43del
ENST00000223051.7:c.2136+30_2136+43del ENSP00000223051.3:n.2136+30_2136+43del
ENST00000431692.5:c.*811+30_*811+43del ENSP00000413905.1:n.*811+30_*811+43del
ENST00000461176.1:n.512_525del
ENST00000462090.5:n.1172+30_1172+43del
ENST00000462107.1:c.2136+30_2136+43del ENSP00000420525.1:n.2136+30_2136+43del
ENST00000465294.5:n.2056+30_2056+43del
ENST00000476304.5:n.1757+30_1757+43del
ENST00000490084.5:c.1489+30_1489+43del
NM_001206855.1:c.1623+30_1623+43del NP_001193784.1:n.1623+30_1623+43del
NM_003227.3:c.2136+30_2136+43del NP_003218.2:n.2136+30_2136+43del
XM_005250553.3:c.2136+30_2136+43del XP_005250610.1:n.2136+30_2136+43del
XM_005250554.3:c.2136+30_2136+43del XP_005250611.1:n.2136+30_2136+43del
XR_927814.1:n.433+4174_433+4187del
NM_001206855.2:c.1623+30_1623+43del NP_001193784.1:n.1623+30_1623+43del
XM_005250553.4:c.2136+30_2136+43del XP_005250610.1:n.2136+30_2136+43del
XM_017012573.1:c.2136+30_2136+43del XP_016868062.1:n.2136+30_2136+43del
NM_003227.4:c.2136+30_2136+43del MANE Select NP_003218.2:n.2136+30_2136+43del
NM_001206855.3:c.1623+30_1623+43del NP_001193784.1:n.1623+30_1623+43del