Canonical Allele Identifier: CA456895227

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1543737
• ClinVar RCV Id: RCV002170349
• dbSNP Id: rs2131327980
• MyVariant Identifiers: chr7:g.100238825C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100641202C>T , CM000669.2:g.100641202C>T	GRCh38
NC_000007.13:g.100238825C>T , CM000669.1:g.100238825C>T	GRCh37
NC_000007.12:g.100076761C>T	NCBI36
NG_007989.1:g.5349G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.60G>A MANE Select	ENSP00000223051.3:p.Gln20=
ENST00000223051.7:c.60G>A	ENSP00000223051.3:p.Gln20=
ENST00000431692.5:c.60G>A	ENSP00000413905.1:p.Gln20=
ENST00000462107.1:c.60G>A	ENSP00000420525.1:p.Gln20=
ENST00000465294.5:n.65G>A
ENST00000474947.1:n.218G>A
NM_003227.3:c.60G>A	NP_003218.2:p.Gln20=
XM_005250553.3:c.60G>A	XP_005250610.1:p.Gln20=
XM_005250554.3:c.60G>A	XP_005250611.1:p.Gln20=
XM_005250553.4:c.60G>A	XP_005250610.1:p.Gln20=
XM_017012573.1:c.60G>A	XP_016868062.1:p.Gln20=
NM_003227.4:c.60G>A MANE Select	NP_003218.2:p.Gln20=