Canonical Allele Identifier: CA368534073

Gene: TFR2

Linked Data

• dbSNP Id: rs1191693530
• gnomAD v2: 7-100230721-C-T
• MyVariant Identifiers: chr7:g.100230721C>T (hg19) ; chr7:g.100633098C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633098C>T , CM000669.2:g.100633098C>T	GRCh38
NC_000007.13:g.100230721C>T , CM000669.1:g.100230721C>T	GRCh37
NC_000007.12:g.100068657C>T	NCBI36
NG_007989.1:g.13453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.752G>A MANE Select	ENSP00000223051.3:p.Gly251Glu
ENST00000223051.7:c.752G>A	ENSP00000223051.3:p.Gly251Glu
ENST00000431692.5:c.752G>A	ENSP00000413905.1:p.Gly251Glu
ENST00000462107.1:c.752G>A	ENSP00000420525.1:p.Gly251Glu
ENST00000465294.5:n.757G>A
ENST00000473374.5:n.202G>A
ENST00000473571.1:n.206G>A
ENST00000475011.1:n.281G>A
ENST00000476304.5:n.373G>A
ENST00000490084.5:c.7G>A
NM_001206855.1:c.239G>A	NP_001193784.1:p.Gly80Glu
NM_003227.3:c.752G>A	NP_003218.2:p.Gly251Glu
XM_005250553.3:c.752G>A	XP_005250610.1:p.Gly251Glu
XM_005250554.3:c.752G>A	XP_005250611.1:p.Gly251Glu
NM_001206855.2:c.239G>A	NP_001193784.1:p.Gly80Glu
XM_005250553.4:c.752G>A	XP_005250610.1:p.Gly251Glu
XM_017012573.1:c.752G>A	XP_016868062.1:p.Gly251Glu
NM_003227.4:c.752G>A MANE Select	NP_003218.2:p.Gly251Glu
NM_001206855.3:c.239G>A	NP_001193784.1:p.Gly80Glu