Canonical Allele Identifier: CA368522888

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626842-T-C
• MyVariant Identifiers: chr7:g.100224465T>C (hg19) ; chr7:g.100626842T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626842T>C , CM000669.2:g.100626842T>C	GRCh38
NC_000007.13:g.100224465T>C , CM000669.1:g.100224465T>C	GRCh37
NC_000007.12:g.100062401T>C	NCBI36
NG_007989.1:g.19709A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2057A>G MANE Select	ENSP00000223051.3:p.Glu686Gly
ENST00000223051.7:c.2057A>G	ENSP00000223051.3:p.Glu686Gly
ENST00000431692.5:c.*732A>G	ENSP00000413905.1:n.*732A>G
ENST00000461176.1:n.403A>G
ENST00000462090.5:n.1093A>G
ENST00000462107.1:c.2057A>G	ENSP00000420525.1:p.Glu686Gly
ENST00000465294.5:n.1977A>G
ENST00000476304.5:n.1678A>G
ENST00000490084.5:c.1410A>G
NM_001206855.1:c.1544A>G	NP_001193784.1:p.Glu515Gly
NM_003227.3:c.2057A>G	NP_003218.2:p.Glu686Gly
XM_005250553.3:c.2057A>G	XP_005250610.1:p.Glu686Gly
XM_005250554.3:c.2057A>G	XP_005250611.1:p.Glu686Gly
XR_927814.1:n.433+4288T>C
NM_001206855.2:c.1544A>G	NP_001193784.1:p.Glu515Gly
XM_005250553.4:c.2057A>G	XP_005250610.1:p.Glu686Gly
XM_017012573.1:c.2057A>G	XP_016868062.1:p.Glu686Gly
NM_003227.4:c.2057A>G MANE Select	NP_003218.2:p.Glu686Gly
NM_001206855.3:c.1544A>G	NP_001193784.1:p.Glu515Gly