Canonical Allele Identifier: CA2684106860

Gene: TFR2

Linked Data

• gnomAD v4: 7-100627271-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627275del , CM000669.2:g.100627275del	GRCh38
NC_000007.13:g.100224898del , CM000669.1:g.100224898del	GRCh37
NC_000007.12:g.100062834del	NCBI36
NG_007989.1:g.19279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1987del MANE Select	ENSP00000223051.3:p.Asp663ThrfsTer7
ENST00000223051.7:c.1987del	ENSP00000223051.3:p.Asp663ThrfsTer7
ENST00000431692.5:c.*662del	ENSP00000413905.1:n.*662del
ENST00000461176.1:n.333del
ENST00000462090.5:n.1023del
ENST00000462107.1:c.1987del	ENSP00000420525.1:p.Asp663ThrfsTer7
ENST00000465294.5:n.1907del
ENST00000476304.5:n.1608del
ENST00000490084.5:c.1340del
NM_001206855.1:c.1474del	NP_001193784.1:p.Asp492ThrfsTer7
NM_003227.3:c.1987del	NP_003218.2:p.Asp663ThrfsTer7
XM_005250553.3:c.1987del	XP_005250610.1:p.Asp663ThrfsTer7
XM_005250554.3:c.1987del	XP_005250611.1:p.Asp663ThrfsTer7
XR_927814.1:n.434-3881del
NM_001206855.2:c.1474del	NP_001193784.1:p.Asp492ThrfsTer7
XM_005250553.4:c.1987del	XP_005250610.1:p.Asp663ThrfsTer7
XM_017012573.1:c.1987del	XP_016868062.1:p.Asp663ThrfsTer7
NM_003227.4:c.1987del MANE Select	NP_003218.2:p.Asp663ThrfsTer7
NM_001206855.3:c.1474del	NP_001193784.1:p.Asp492ThrfsTer7