Canonical Allele Identifier: CA336314

Gene: TFR2

Linked Data

• ClinVar Variation Id: 215505
• ClinVar RCV Id: RCV000196304 ; RCV001273160
• dbSNP Id: rs141968146
• ExAC: 7:100238750 C / T
• gnomAD v2: 7-100238750-C-T
• gnomAD v3: 7-100641127-C-T
• gnomAD v4: 7-100641127-C-T
• MyVariant Identifiers: chr7:g.100238750C>T (hg19) ; chr7:g.100641127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100641127C>T , CM000669.2:g.100641127C>T	GRCh38
NC_000007.13:g.100238750C>T , CM000669.1:g.100238750C>T	GRCh37
NC_000007.12:g.100076686C>T	NCBI36
NG_007989.1:g.5424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.135G>A MANE Select	ENSP00000223051.3:p.Ala45=
ENST00000223051.7:c.135G>A	ENSP00000223051.3:p.Ala45=
ENST00000431692.5:c.135G>A	ENSP00000413905.1:p.Ala45=
ENST00000462107.1:c.135G>A	ENSP00000420525.1:p.Ala45=
ENST00000465294.5:n.140G>A
ENST00000474947.1:n.293G>A
NM_003227.3:c.135G>A	NP_003218.2:p.Ala45=
XM_005250553.3:c.135G>A	XP_005250610.1:p.Ala45=
XM_005250554.3:c.135G>A	XP_005250611.1:p.Ala45=
XM_005250553.4:c.135G>A	XP_005250610.1:p.Ala45=
XM_017012573.1:c.135G>A	XP_016868062.1:p.Ala45=
NM_003227.4:c.135G>A MANE Select	NP_003218.2:p.Ala45=