Canonical Allele Identifier: CA2777154993
Gene: TFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626912_100626930dup , CM000669.2:g.100626912_100626930dup GRCh38
NC_000007.13:g.100224535_100224553dup , CM000669.1:g.100224535_100224553dup GRCh37
NC_000007.12:g.100062471_100062489dup NCBI36
NG_007989.1:g.19621_19639dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.1996-27_1996-9dup MANE Select ENSP00000223051.3:n.1996-27_1996-9dup
ENST00000223051.7:c.1996-27_1996-9dup ENSP00000223051.3:n.1996-27_1996-9dup
ENST00000431692.5:c.*671-27_*671-9dup ENSP00000413905.1:n.*671-27_*671-9dup
ENST00000461176.1:n.342-27_342-9dup
ENST00000462090.5:n.1032-27_1032-9dup
ENST00000462107.1:c.1996-27_1996-9dup ENSP00000420525.1:n.1996-27_1996-9dup
ENST00000465294.5:n.1916-27_1916-9dup
ENST00000476304.5:n.1617-27_1617-9dup
ENST00000490084.5:c.1349-27_1349-9dup
NM_001206855.1:c.1483-27_1483-9dup NP_001193784.1:n.1483-27_1483-9dup
NM_003227.3:c.1996-27_1996-9dup NP_003218.2:n.1996-27_1996-9dup
XM_005250553.3:c.1996-27_1996-9dup XP_005250610.1:n.1996-27_1996-9dup
XM_005250554.3:c.1996-27_1996-9dup XP_005250611.1:n.1996-27_1996-9dup
XR_927814.1:n.434-4244_434-4226dup
NM_001206855.2:c.1483-27_1483-9dup NP_001193784.1:n.1483-27_1483-9dup
XM_005250553.4:c.1996-27_1996-9dup XP_005250610.1:n.1996-27_1996-9dup
XM_017012573.1:c.1996-27_1996-9dup XP_016868062.1:n.1996-27_1996-9dup
NM_003227.4:c.1996-27_1996-9dup MANE Select NP_003218.2:n.1996-27_1996-9dup
NM_001206855.3:c.1483-27_1483-9dup NP_001193784.1:n.1483-27_1483-9dup