Canonical Allele Identifier: CA456749837

Gene: TFR2

Linked Data

• ClinVar Variation Id: 909091
• ClinVar RCV Id: RCV001159989 ; RCV001467365
• dbSNP Id: rs1262970273
• MyVariant Identifiers: chr7:g.100230651G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633028G>A , CM000669.2:g.100633028G>A	GRCh38
NC_000007.13:g.100230651G>A , CM000669.1:g.100230651G>A	GRCh37
NC_000007.12:g.100068587G>A	NCBI36
NG_007989.1:g.13523C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.822C>T MANE Select	ENSP00000223051.3:p.Arg274=
ENST00000223051.7:c.822C>T	ENSP00000223051.3:p.Arg274=
ENST00000431692.5:c.822C>T	ENSP00000413905.1:p.Arg274=
ENST00000462090.5:n.63C>T
ENST00000462107.1:c.822C>T	ENSP00000420525.1:p.Arg274=
ENST00000465294.5:n.827C>T
ENST00000473374.5:n.272C>T
ENST00000473571.1:n.276C>T
ENST00000475011.1:n.351C>T
ENST00000476304.5:n.443C>T
ENST00000490084.5:c.77C>T
NM_001206855.1:c.309C>T	NP_001193784.1:p.Arg103=
NM_003227.3:c.822C>T	NP_003218.2:p.Arg274=
XM_005250553.3:c.822C>T	XP_005250610.1:p.Arg274=
XM_005250554.3:c.822C>T	XP_005250611.1:p.Arg274=
NM_001206855.2:c.309C>T	NP_001193784.1:p.Arg103=
XM_005250553.4:c.822C>T	XP_005250610.1:p.Arg274=
XM_017012573.1:c.822C>T	XP_016868062.1:p.Arg274=
NM_003227.4:c.822C>T MANE Select	NP_003218.2:p.Arg274=
NM_001206855.3:c.309C>T	NP_001193784.1:p.Arg103=