Canonical Allele Identifier: CA368521995

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100218670T>G (hg19) ; chr7:g.100621047T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621047T>G , CM000669.2:g.100621047T>G	GRCh38
NC_000007.13:g.100218670T>G , CM000669.1:g.100218670T>G	GRCh37
NC_000007.12:g.100056606T>G	NCBI36
NG_007989.1:g.25504A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2216A>C MANE Select	ENSP00000223051.3:p.His739Pro
ENST00000223051.7:c.2216A>C	ENSP00000223051.3:p.His739Pro
ENST00000431692.5:c.*891A>C	ENSP00000413905.1:n.*891A>C
ENST00000462090.5:n.1252A>C
ENST00000462107.1:c.2216A>C	ENSP00000420525.1:p.His739Pro
ENST00000465294.5:n.2136A>C
ENST00000476304.5:n.1837A>C
ENST00000490084.5:c.1569A>C
NM_001206855.1:c.1703A>C	NP_001193784.1:p.His568Pro
NM_003227.3:c.2216A>C	NP_003218.2:p.His739Pro
XM_005250553.3:c.2216A>C	XP_005250610.1:p.His739Pro
NM_001206855.2:c.1703A>C	NP_001193784.1:p.His568Pro
XM_005250553.4:c.2216A>C	XP_005250610.1:p.His739Pro
XM_017012573.1:c.2216A>C	XP_016868062.1:p.His739Pro
NM_003227.4:c.2216A>C MANE Select	NP_003218.2:p.His739Pro
NM_001206855.3:c.1703A>C	NP_001193784.1:p.His568Pro