Canonical Allele Identifier: CA368527796

Gene: TFR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100628294C>A , CM000669.2:g.100628294C>A	GRCh38
NC_000007.13:g.100225917C>A , CM000669.1:g.100225917C>A	GRCh37
NC_000007.12:g.100063853C>A	NCBI36
NG_007989.1:g.18257G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1403G>T MANE Select	ENSP00000223051.3:p.Arg468Leu
ENST00000223051.7:c.1403G>T	ENSP00000223051.3:p.Arg468Leu
ENST00000431692.5:c.*78G>T	ENSP00000413905.1:n.*78G>T
ENST00000462090.5:n.267G>T
ENST00000462107.1:c.1403G>T	ENSP00000420525.1:p.Arg468Leu
ENST00000465294.5:n.1151G>T
ENST00000473374.5:n.476G>T
ENST00000473963.1:n.432G>T
ENST00000476304.5:n.1024G>T
ENST00000490084.5:c.756G>T
NM_001206855.1:c.890G>T	NP_001193784.1:p.Arg297Leu
NM_003227.3:c.1403G>T	NP_003218.2:p.Arg468Leu
XM_005250553.3:c.1403G>T	XP_005250610.1:p.Arg468Leu
XM_005250554.3:c.1403G>T	XP_005250611.1:p.Arg468Leu
XR_927814.1:n.434-2862C>A
NM_001206855.2:c.890G>T	NP_001193784.1:p.Arg297Leu
XM_005250553.4:c.1403G>T	XP_005250610.1:p.Arg468Leu
XM_017012573.1:c.1403G>T	XP_016868062.1:p.Arg468Leu
NM_003227.4:c.1403G>T MANE Select	NP_003218.2:p.Arg468Leu
NM_001206855.3:c.890G>T	NP_001193784.1:p.Arg297Leu