Canonical Allele Identifier: CA2684105903

Gene: TFR2

Linked Data

• gnomAD v4: 7-100620742-A-AAATT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620743_100620746dup , CM000669.2:g.100620743_100620746dup	GRCh38
NC_000007.13:g.100218366_100218369dup , CM000669.1:g.100218366_100218369dup	GRCh37
NC_000007.12:g.100056302_100056305dup	NCBI36
NG_007989.1:g.25805_25808dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*111_*114dup MANE Select	ENSP00000223051.3:n.*111_*114dup
ENST00000223051.7:c.*111_*114dup	ENSP00000223051.3:n.*111_*114dup
ENST00000431692.5:c.*1192_*1195dup	ENSP00000413905.1:n.*1192_*1195dup
ENST00000462090.5:n.1553_1556dup
ENST00000462107.1:c.*111_*114dup	ENSP00000420525.1:n.*111_*114dup
ENST00000465294.5:n.2437_2440dup
ENST00000476304.5:n.2138_2141dup
ENST00000490084.5:c.1870_1873dup
NM_001206855.1:c.*111_*114dup	NP_001193784.1:n.*111_*114dup
NM_003227.3:c.*111_*114dup	NP_003218.2:n.*111_*114dup
XM_005250553.3:c.*111_*114dup	XP_005250610.1:n.*111_*114dup
NM_001206855.2:c.*111_*114dup	NP_001193784.1:n.*111_*114dup
XM_005250553.4:c.*111_*114dup	XP_005250610.1:n.*111_*114dup
XM_017012573.1:c.*111_*114dup	XP_016868062.1:n.*111_*114dup
NM_003227.4:c.*111_*114dup MANE Select	NP_003218.2:n.*111_*114dup
NM_001206855.3:c.*111_*114dup	NP_001193784.1:n.*111_*114dup