Canonical Allele Identifier: CA2684106446
Gene: TFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626728_100626755dup , CM000669.2:g.100626728_100626755dup GRCh38
NC_000007.13:g.100224351_100224378dup , CM000669.1:g.100224351_100224378dup GRCh37
NC_000007.12:g.100062287_100062314dup NCBI36
NG_007989.1:g.19803_19830dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.2136+15_2136+42dup MANE Select ENSP00000223051.3:n.2136+15_2136+42dup
ENST00000223051.7:c.2136+15_2136+42dup ENSP00000223051.3:n.2136+15_2136+42dup
ENST00000431692.5:c.*811+15_*811+42dup ENSP00000413905.1:n.*811+15_*811+42dup
ENST00000461176.1:n.497_524dup
ENST00000462090.5:n.1172+15_1172+42dup
ENST00000462107.1:c.2136+15_2136+42dup ENSP00000420525.1:n.2136+15_2136+42dup
ENST00000465294.5:n.2056+15_2056+42dup
ENST00000476304.5:n.1757+15_1757+42dup
ENST00000490084.5:c.1489+15_1489+42dup
NM_001206855.1:c.1623+15_1623+42dup NP_001193784.1:n.1623+15_1623+42dup
NM_003227.3:c.2136+15_2136+42dup NP_003218.2:n.2136+15_2136+42dup
XM_005250553.3:c.2136+15_2136+42dup XP_005250610.1:n.2136+15_2136+42dup
XM_005250554.3:c.2136+15_2136+42dup XP_005250611.1:n.2136+15_2136+42dup
XR_927814.1:n.433+4174_433+4201dup
NM_001206855.2:c.1623+15_1623+42dup NP_001193784.1:n.1623+15_1623+42dup
XM_005250553.4:c.2136+15_2136+42dup XP_005250610.1:n.2136+15_2136+42dup
XM_017012573.1:c.2136+15_2136+42dup XP_016868062.1:n.2136+15_2136+42dup
NM_003227.4:c.2136+15_2136+42dup MANE Select NP_003218.2:n.2136+15_2136+42dup
NM_001206855.3:c.1623+15_1623+42dup NP_001193784.1:n.1623+15_1623+42dup