Canonical Allele Identifier: CA2684106502

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626838-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626842del , CM000669.2:g.100626842del	GRCh38
NC_000007.13:g.100224465del , CM000669.1:g.100224465del	GRCh37
NC_000007.12:g.100062401del	NCBI36
NG_007989.1:g.19712del

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2060del MANE Select	ENSP00000223051.3:p.Lys687SerfsTer16
ENST00000223051.7:c.2060del	ENSP00000223051.3:p.Lys687SerfsTer16
ENST00000431692.5:c.*735del	ENSP00000413905.1:n.*735del
ENST00000461176.1:n.406del
ENST00000462090.5:n.1096del
ENST00000462107.1:c.2060del	ENSP00000420525.1:p.Lys687SerfsTer16
ENST00000465294.5:n.1980del
ENST00000476304.5:n.1681del
ENST00000490084.5:c.1413del
NM_001206855.1:c.1547del	NP_001193784.1:p.Lys516SerfsTer16
NM_003227.3:c.2060del	NP_003218.2:p.Lys687SerfsTer16
XM_005250553.3:c.2060del	XP_005250610.1:p.Lys687SerfsTer16
XM_005250554.3:c.2060del	XP_005250611.1:p.Lys687SerfsTer16
XR_927814.1:n.433+4288del
NM_001206855.2:c.1547del	NP_001193784.1:p.Lys516SerfsTer16
XM_005250553.4:c.2060del	XP_005250610.1:p.Lys687SerfsTer16
XM_017012573.1:c.2060del	XP_016868062.1:p.Lys687SerfsTer16
NM_003227.4:c.2060del MANE Select	NP_003218.2:p.Lys687SerfsTer16
NM_001206855.3:c.1547del	NP_001193784.1:p.Lys516SerfsTer16