Canonical Allele Identifier: CA341982

Gene: TFR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627399_100627410del , CM000669.2:g.100627399_100627410del	GRCh38
NC_000007.13:g.100225022_100225033del , CM000669.1:g.100225022_100225033del	GRCh37
NC_000007.12:g.100062958_100062969del	NCBI36
NG_007989.1:g.19153_19164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1861_1872del MANE Select	ENSP00000223051.3:p.Ala621_Gln624del
ENST00000223051.7:c.1861_1872del	ENSP00000223051.3:p.Ala621_Gln624del
ENST00000431692.5:c.*536_*547del	ENSP00000413905.1:n.*536_*547del
ENST00000461176.1:n.207_218del
ENST00000462090.5:n.897_908del
ENST00000462107.1:c.1861_1872del	ENSP00000420525.1:p.Ala621_Gln624del
ENST00000465294.5:n.1781_1792del
ENST00000476304.5:n.1482_1493del
ENST00000490084.5:c.1214_1225del
NM_001206855.1:c.1348_1359del	NP_001193784.1:p.Ala450_Gln453del
NM_003227.3:c.1861_1872del	NP_003218.2:p.Ala621_Gln624del
XM_005250553.3:c.1861_1872del	XP_005250610.1:p.Ala621_Gln624del
XM_005250554.3:c.1861_1872del	XP_005250611.1:p.Ala621_Gln624del
XR_927814.1:n.434-3757_434-3746del
NM_001206855.2:c.1348_1359del	NP_001193784.1:p.Ala450_Gln453del
XM_005250553.4:c.1861_1872del	XP_005250610.1:p.Ala621_Gln624del
XM_017012573.1:c.1861_1872del	XP_016868062.1:p.Ala621_Gln624del
NM_003227.4:c.1861_1872del MANE Select	NP_003218.2:p.Ala621_Gln624del
NM_001206855.3:c.1348_1359del	NP_001193784.1:p.Ala450_Gln453del