Canonical Allele Identifier: CA368525978

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100225250A>G (hg19) ; chr7:g.100627627A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627627A>G , CM000669.2:g.100627627A>G	GRCh38
NC_000007.13:g.100225250A>G , CM000669.1:g.100225250A>G	GRCh37
NC_000007.12:g.100063186A>G	NCBI36
NG_007989.1:g.18924T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1717T>C MANE Select	ENSP00000223051.3:p.Ser573Pro
ENST00000223051.7:c.1717T>C	ENSP00000223051.3:p.Ser573Pro
ENST00000431692.5:c.*392T>C	ENSP00000413905.1:n.*392T>C
ENST00000462090.5:n.668T>C
ENST00000462107.1:c.1717T>C	ENSP00000420525.1:p.Ser573Pro
ENST00000465294.5:n.1552T>C
ENST00000473374.5:n.790T>C
ENST00000473963.1:n.746T>C
ENST00000476304.5:n.1338T>C
ENST00000490084.5:c.1070T>C
NM_001206855.1:c.1204T>C	NP_001193784.1:p.Ser402Pro
NM_003227.3:c.1717T>C	NP_003218.2:p.Ser573Pro
XM_005250553.3:c.1717T>C	XP_005250610.1:p.Ser573Pro
XM_005250554.3:c.1717T>C	XP_005250611.1:p.Ser573Pro
XR_927814.1:n.434-3529A>G
NM_001206855.2:c.1204T>C	NP_001193784.1:p.Ser402Pro
XM_005250553.4:c.1717T>C	XP_005250610.1:p.Ser573Pro
XM_017012573.1:c.1717T>C	XP_016868062.1:p.Ser573Pro
NM_003227.4:c.1717T>C MANE Select	NP_003218.2:p.Ser573Pro
NM_001206855.3:c.1204T>C	NP_001193784.1:p.Ser402Pro