Canonical Allele Identifier: CA2684109154

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633024-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633026_100633027del , CM000669.2:g.100633026_100633027del	GRCh38
NC_000007.13:g.100230649_100230650del , CM000669.1:g.100230649_100230650del	GRCh37
NC_000007.12:g.100068585_100068586del	NCBI36
NG_007989.1:g.13525_13526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.824_825del MANE Select	ENSP00000223051.3:p.Val275GlyfsTer?
ENST00000223051.7:c.824_825del	ENSP00000223051.3:p.Val275GlyfsTer?
ENST00000431692.5:c.824_825del	ENSP00000413905.1:p.Val275GlyfsTer25
ENST00000462090.5:n.65_66del
ENST00000462107.1:c.824_825del	ENSP00000420525.1:p.Val275GlyfsTer?
ENST00000465294.5:n.829_830del
ENST00000473374.5:n.274_275del
ENST00000473571.1:n.278_279del
ENST00000475011.1:n.353_354del
ENST00000476304.5:n.445_446del
ENST00000490084.5:c.79_80del
NM_001206855.1:c.311_312del	NP_001193784.1:p.Val104GlyfsTer?
NM_003227.3:c.824_825del	NP_003218.2:p.Val275GlyfsTer?
XM_005250553.3:c.824_825del	XP_005250610.1:p.Val275GlyfsTer?
XM_005250554.3:c.824_825del	XP_005250611.1:p.Val275GlyfsTer?
NM_001206855.2:c.311_312del	NP_001193784.1:p.Val104GlyfsTer?
XM_005250553.4:c.824_825del	XP_005250610.1:p.Val275GlyfsTer?
XM_017012573.1:c.824_825del	XP_016868062.1:p.Val275GlyfsTer?
NM_003227.4:c.824_825del MANE Select	NP_003218.2:p.Val275GlyfsTer?
NM_001206855.3:c.311_312del	NP_001193784.1:p.Val104GlyfsTer?