Canonical Allele Identifier: CA368533610

Gene: TFR2

Linked Data

• dbSNP Id: rs1803492592
• gnomAD v3: 7-100633017-A-G
• gnomAD v4: 7-100633017-A-G
• MyVariant Identifiers: chr7:g.100230640A>G (hg19) ; chr7:g.100633017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633017A>G , CM000669.2:g.100633017A>G	GRCh38
NC_000007.13:g.100230640A>G , CM000669.1:g.100230640A>G	GRCh37
NC_000007.12:g.100068576A>G	NCBI36
NG_007989.1:g.13534T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.833T>C MANE Select	ENSP00000223051.3:p.Ile278Thr
ENST00000223051.7:c.833T>C	ENSP00000223051.3:p.Ile278Thr
ENST00000431692.5:c.833T>C	ENSP00000413905.1:p.Ile278Thr
ENST00000462090.5:n.74T>C
ENST00000462107.1:c.833T>C	ENSP00000420525.1:p.Ile278Thr
ENST00000465294.5:n.838T>C
ENST00000473374.5:n.283T>C
ENST00000473571.1:n.287T>C
ENST00000475011.1:n.362T>C
ENST00000476304.5:n.454T>C
ENST00000490084.5:c.88T>C
NM_001206855.1:c.320T>C	NP_001193784.1:p.Ile107Thr
NM_003227.3:c.833T>C	NP_003218.2:p.Ile278Thr
XM_005250553.3:c.833T>C	XP_005250610.1:p.Ile278Thr
XM_005250554.3:c.833T>C	XP_005250611.1:p.Ile278Thr
NM_001206855.2:c.320T>C	NP_001193784.1:p.Ile107Thr
XM_005250553.4:c.833T>C	XP_005250610.1:p.Ile278Thr
XM_017012573.1:c.833T>C	XP_016868062.1:p.Ile278Thr
NM_003227.4:c.833T>C MANE Select	NP_003218.2:p.Ile278Thr
NM_001206855.3:c.320T>C	NP_001193784.1:p.Ile107Thr