Canonical Allele Identifier: CA456749180

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100224386C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626763C>T , CM000669.2:g.100626763C>T	GRCh38
NC_000007.13:g.100224386C>T , CM000669.1:g.100224386C>T	GRCh37
NC_000007.12:g.100062322C>T	NCBI36
NG_007989.1:g.19788G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2136G>A MANE Select	ENSP00000223051.3:p.Arg712=
ENST00000223051.7:c.2136G>A	ENSP00000223051.3:p.Arg712=
ENST00000431692.5:c.*811G>A	ENSP00000413905.1:n.*811G>A
ENST00000461176.1:n.482G>A
ENST00000462090.5:n.1172G>A
ENST00000462107.1:c.2136G>A	ENSP00000420525.1:p.Arg712=
ENST00000465294.5:n.2056G>A
ENST00000476304.5:n.1757G>A
ENST00000490084.5:c.1489G>A
NM_001206855.1:c.1623G>A	NP_001193784.1:p.Arg541=
NM_003227.3:c.2136G>A	NP_003218.2:p.Arg712=
XM_005250553.3:c.2136G>A	XP_005250610.1:p.Arg712=
XM_005250554.3:c.2136G>A	XP_005250611.1:p.Arg712=
XR_927814.1:n.433+4209C>T
NM_001206855.2:c.1623G>A	NP_001193784.1:p.Arg541=
XM_005250553.4:c.2136G>A	XP_005250610.1:p.Arg712=
XM_017012573.1:c.2136G>A	XP_016868062.1:p.Arg712=
NM_003227.4:c.2136G>A MANE Select	NP_003218.2:p.Arg712=
NM_001206855.3:c.1623G>A	NP_001193784.1:p.Arg541=