Canonical Allele Identifier: CA339743
Gene: TFR2 HGNC NCBI
COSMIC:
COSM4908565 (not active)
MyVariant.info:
GRCh38 chr7:g.100628294C>T
GRCh37 chr7:g.100225917C>T
Revel Score:
ENST00000223051 (MANE Select) 0.401
ENST00000462107 0.401
ENST00000544242 0.401
gnomAD v2:
7:100225917 C / T
gnomAD v3:
7:100628294 C / T
gnomAD v4:
chr7-100628294-C-T
Joint Max Group AF 0.00079039 (NFE)
Genomes Max Group AF 0.000822 (NFE)
Exomes Max Group AF 0.00077847 (NFE)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.1403G>A MANE Select ENSP00000223051.3:p.Arg468His
ENST00000223051.7:c.1403G>A ENSP00000223051.3:p.Arg468His
ENST00000431692.5:c.*78G>A ENSP00000413905.1:n.*78G>A
ENST00000462090.5:n.267G>A
ENST00000462107.1:c.1403G>A ENSP00000420525.1:p.Arg468His
ENST00000465294.5:n.1151G>A
ENST00000473374.5:n.476G>A
ENST00000473963.1:n.432G>A
ENST00000476304.5:n.1024G>A
ENST00000490084.5:c.756G>A
NM_001206855.1:c.890G>A NP_001193784.1:p.Arg297His
NM_003227.3:c.1403G>A NP_003218.2:p.Arg468His
XM_005250553.3:c.1403G>A XP_005250610.1:p.Arg468His
XM_005250554.3:c.1403G>A XP_005250611.1:p.Arg468His
XR_927814.1:n.434-2862C>T
NM_001206855.2:c.890G>A NP_001193784.1:p.Arg297His
XM_005250553.4:c.1403G>A XP_005250610.1:p.Arg468His
XM_017012573.1:c.1403G>A XP_016868062.1:p.Arg468His
NM_003227.4:c.1403G>A MANE Select NP_003218.2:p.Arg468His
NM_001206855.3:c.890G>A NP_001193784.1:p.Arg297His
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