Canonical Allele Identifier: CA340411
Gene: TFR2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.100626830T>G
GRCh37 chr7:g.100224453T>G
Revel Score:
ENST00000223051 (MANE Select) 0.212
ENST00000462107 0.212
ENST00000544242 0.212
gnomAD v4:
chr7-100626830-T-G
Joint Max Group AF 0.00000948 (SAS)
Exomes Max Group AF 0.00001006 (SAS)
ClinVar RCV:
RCV000005715
ClinVar Variation:
5384
dbSNP:
80338889
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626830T>G , CM000669.2:g.100626830T>G GRCh38
NC_000007.13:g.100224453T>G , CM000669.1:g.100224453T>G GRCh37
NC_000007.12:g.100062389T>G NCBI36
NG_007989.1:g.19721A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.2069A>C MANE Select ENSP00000223051.3:p.Gln690Pro
ENST00000223051.7:c.2069A>C ENSP00000223051.3:p.Gln690Pro
ENST00000431692.5:c.*744A>C ENSP00000413905.1:n.*744A>C
ENST00000461176.1:n.415A>C
ENST00000462090.5:n.1105A>C
ENST00000462107.1:c.2069A>C ENSP00000420525.1:p.Gln690Pro
ENST00000465294.5:n.1989A>C
ENST00000476304.5:n.1690A>C
ENST00000490084.5:c.1422A>C
NM_001206855.1:c.1556A>C NP_001193784.1:p.Gln519Pro
NM_003227.3:c.2069A>C NP_003218.2:p.Gln690Pro
XM_005250553.3:c.2069A>C XP_005250610.1:p.Gln690Pro
XM_005250554.3:c.2069A>C XP_005250611.1:p.Gln690Pro
XR_927814.1:n.433+4276T>G
NM_001206855.2:c.1556A>C NP_001193784.1:p.Gln519Pro
XM_005250553.4:c.2069A>C XP_005250610.1:p.Gln690Pro
XM_017012573.1:c.2069A>C XP_016868062.1:p.Gln690Pro
NM_003227.4:c.2069A>C MANE Select NP_003218.2:p.Gln690Pro
NM_001206855.3:c.1556A>C NP_001193784.1:p.Gln519Pro
Search 100 bp 5'
Search 100 bp 3'