Canonical Allele Identifier: CA2497214306

Gene: TFR2

Linked Data

• dbSNP Id: rs1803306908

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627706_100627713dup , CM000669.2:g.100627706_100627713dup	GRCh38
NC_000007.13:g.100225329_100225336dup , CM000669.1:g.100225329_100225336dup	GRCh37
NC_000007.12:g.100063265_100063272dup	NCBI36
NG_007989.1:g.18841_18848dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1682+34_1683-42dup MANE Select	ENSP00000223051.3:n.1682+34_1683-42dup
ENST00000223051.7:c.1682+34_1683-42dup	ENSP00000223051.3:n.1682+34_1683-42dup
ENST00000431692.5:c.*357+34_*358-42dup	ENSP00000413905.1:n.*357+34_*358-42dup
ENST00000462090.5:n.633+34_634-42dup
ENST00000462107.1:c.1682+34_1683-42dup	ENSP00000420525.1:n.1682+34_1683-42dup
ENST00000465294.5:n.1517+34_1518-42dup
ENST00000473374.5:n.755+34_756-42dup
ENST00000473963.1:n.711+34_712-42dup
ENST00000476304.5:n.1303+34_1304-42dup
ENST00000490084.5:c.1035+34_1036-42dup
NM_001206855.1:c.1169+34_1170-42dup	NP_001193784.1:n.1169+34_1170-42dup
NM_003227.3:c.1682+34_1683-42dup	NP_003218.2:n.1682+34_1683-42dup
XM_005250553.3:c.1682+34_1683-42dup	XP_005250610.1:n.1682+34_1683-42dup
XM_005250554.3:c.1682+34_1683-42dup	XP_005250611.1:n.1682+34_1683-42dup
XR_927814.1:n.434-3450_434-3443dup
NM_001206855.2:c.1169+34_1170-42dup	NP_001193784.1:n.1169+34_1170-42dup
XM_005250553.4:c.1682+34_1683-42dup	XP_005250610.1:n.1682+34_1683-42dup
XM_017012573.1:c.1682+34_1683-42dup	XP_016868062.1:n.1682+34_1683-42dup
NM_003227.4:c.1682+34_1683-42dup MANE Select	NP_003218.2:n.1682+34_1683-42dup
NM_001206855.3:c.1169+34_1170-42dup	NP_001193784.1:n.1169+34_1170-42dup