Canonical Allele Identifier: CA4386185

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2613782
• ClinVar RCV Id: RCV003374123
• dbSNP Id: rs756328973
• ExAC: 7:100218679 C / T
• gnomAD v2: 7-100218679-C-T
• gnomAD v4: 7-100621056-C-T
• MyVariant Identifiers: chr7:g.100218679C>T (hg19) ; chr7:g.100621056C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621056C>T , CM000669.2:g.100621056C>T	GRCh38
NC_000007.13:g.100218679C>T , CM000669.1:g.100218679C>T	GRCh37
NC_000007.12:g.100056615C>T	NCBI36
NG_007989.1:g.25495G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2207G>A MANE Select	ENSP00000223051.3:p.Arg736His
ENST00000223051.7:c.2207G>A	ENSP00000223051.3:p.Arg736His
ENST00000431692.5:c.*882G>A	ENSP00000413905.1:n.*882G>A
ENST00000462090.5:n.1243G>A
ENST00000462107.1:c.2207G>A	ENSP00000420525.1:p.Arg736His
ENST00000465294.5:n.2127G>A
ENST00000476304.5:n.1828G>A
ENST00000490084.5:c.1560G>A
NM_001206855.1:c.1694G>A	NP_001193784.1:p.Arg565His
NM_003227.3:c.2207G>A	NP_003218.2:p.Arg736His
XM_005250553.3:c.2207G>A	XP_005250610.1:p.Arg736His
NM_001206855.2:c.1694G>A	NP_001193784.1:p.Arg565His
XM_005250553.4:c.2207G>A	XP_005250610.1:p.Arg736His
XM_017012573.1:c.2207G>A	XP_016868062.1:p.Arg736His
NM_003227.4:c.2207G>A MANE Select	NP_003218.2:p.Arg736His
NM_001206855.3:c.1694G>A	NP_001193784.1:p.Arg565His