Canonical Allele Identifier: CA918086098

Gene: TFR2

Linked Data

• dbSNP Id: rs1562838671

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627707_100627711del , CM000669.2:g.100627707_100627711del	GRCh38
NC_000007.13:g.100225330_100225334del , CM000669.1:g.100225330_100225334del	GRCh37
NC_000007.12:g.100063266_100063270del	NCBI36
NG_007989.1:g.18841_18845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1682+34_1682+38del MANE Select	ENSP00000223051.3:n.1682+34_1682+38del
ENST00000223051.7:c.1682+34_1682+38del	ENSP00000223051.3:n.1682+34_1682+38del
ENST00000431692.5:c.*357+34_*357+38del	ENSP00000413905.1:n.*357+34_*357+38del
ENST00000462090.5:n.633+34_633+38del
ENST00000462107.1:c.1682+34_1682+38del	ENSP00000420525.1:n.1682+34_1682+38del
ENST00000465294.5:n.1517+34_1517+38del
ENST00000473374.5:n.755+34_755+38del
ENST00000473963.1:n.711+34_711+38del
ENST00000476304.5:n.1303+34_1303+38del
ENST00000490084.5:c.1035+34_1035+38del
NM_001206855.1:c.1169+34_1169+38del	NP_001193784.1:n.1169+34_1169+38del
NM_003227.3:c.1682+34_1682+38del	NP_003218.2:n.1682+34_1682+38del
XM_005250553.3:c.1682+34_1682+38del	XP_005250610.1:n.1682+34_1682+38del
XM_005250554.3:c.1682+34_1682+38del	XP_005250611.1:n.1682+34_1682+38del
XR_927814.1:n.434-3449_434-3445del
NM_001206855.2:c.1169+34_1169+38del	NP_001193784.1:n.1169+34_1169+38del
XM_005250553.4:c.1682+34_1682+38del	XP_005250610.1:n.1682+34_1682+38del
XM_017012573.1:c.1682+34_1682+38del	XP_016868062.1:n.1682+34_1682+38del
NM_003227.4:c.1682+34_1682+38del MANE Select	NP_003218.2:n.1682+34_1682+38del
NM_001206855.3:c.1169+34_1169+38del	NP_001193784.1:n.1169+34_1169+38del