Canonical Allele Identifier: CA2740097437

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2971822
• ClinVar RCV Id: RCV003832884

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626802_100626806del , CM000669.2:g.100626802_100626806del	GRCh38
NC_000007.13:g.100224425_100224429del , CM000669.1:g.100224425_100224429del	GRCh37
NC_000007.12:g.100062361_100062365del	NCBI36
NG_007989.1:g.19748_19752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2096_2100del MANE Select	ENSP00000223051.3:p.Asp699AlafsTer?
ENST00000223051.7:c.2096_2100del	ENSP00000223051.3:p.Asp699AlafsTer?
ENST00000431692.5:c.*771_*775del	ENSP00000413905.1:n.*771_*775del
ENST00000461176.1:n.442_446del
ENST00000462090.5:n.1132_1136del
ENST00000462107.1:c.2096_2100del	ENSP00000420525.1:p.Asp699AlafsTer?
ENST00000465294.5:n.2016_2020del
ENST00000476304.5:n.1717_1721del
ENST00000490084.5:c.1449_1453del
NM_001206855.1:c.1583_1587del	NP_001193784.1:p.Asp528AlafsTer?
NM_003227.3:c.2096_2100del	NP_003218.2:p.Asp699AlafsTer?
XM_005250553.3:c.2096_2100del	XP_005250610.1:p.Asp699AlafsTer?
XM_005250554.3:c.2096_2100del	XP_005250611.1:p.Asp699AlafsTer20
XR_927814.1:n.433+4248_433+4252del
NM_001206855.2:c.1583_1587del	NP_001193784.1:p.Asp528AlafsTer?
XM_005250553.4:c.2096_2100del	XP_005250610.1:p.Asp699AlafsTer?
XM_017012573.1:c.2096_2100del	XP_016868062.1:p.Asp699AlafsTer?
NM_003227.4:c.2096_2100del MANE Select	NP_003218.2:p.Asp699AlafsTer?
NM_001206855.3:c.1583_1587del	NP_001193784.1:p.Asp528AlafsTer?