Canonical Allele Identifier: CA4386186

Gene: TFR2

Linked Data

• dbSNP Id: rs778048538
• ExAC: 7:100218689 A / G
• gnomAD v2: 7-100218689-A-G
• gnomAD v3: 7-100621066-A-G
• gnomAD v4: 7-100621066-A-G
• MyVariant Identifiers: chr7:g.100218689A>G (hg19) ; chr7:g.100621066A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621066A>G , CM000669.2:g.100621066A>G	GRCh38
NC_000007.13:g.100218689A>G , CM000669.1:g.100218689A>G	GRCh37
NC_000007.12:g.100056625A>G	NCBI36
NG_007989.1:g.25485T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2197T>C MANE Select	ENSP00000223051.3:p.Phe733Leu
ENST00000223051.7:c.2197T>C	ENSP00000223051.3:p.Phe733Leu
ENST00000431692.5:c.*872T>C	ENSP00000413905.1:n.*872T>C
ENST00000462090.5:n.1233T>C
ENST00000462107.1:c.2197T>C	ENSP00000420525.1:p.Phe733Leu
ENST00000465294.5:n.2117T>C
ENST00000476304.5:n.1818T>C
ENST00000490084.5:c.1550T>C
NM_001206855.1:c.1684T>C	NP_001193784.1:p.Phe562Leu
NM_003227.3:c.2197T>C	NP_003218.2:p.Phe733Leu
XM_005250553.3:c.2197T>C	XP_005250610.1:p.Phe733Leu
NM_001206855.2:c.1684T>C	NP_001193784.1:p.Phe562Leu
XM_005250553.4:c.2197T>C	XP_005250610.1:p.Phe733Leu
XM_017012573.1:c.2197T>C	XP_016868062.1:p.Phe733Leu
NM_003227.4:c.2197T>C MANE Select	NP_003218.2:p.Phe733Leu
NM_001206855.3:c.1684T>C	NP_001193784.1:p.Phe562Leu