Canonical Allele Identifier: CA456749226

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2911461
• ClinVar RCV Id: RCV003751413
• dbSNP Id: rs1357723414
• gnomAD v3: 7-100626799-C-T
• gnomAD v4: 7-100626799-C-T
• MyVariant Identifiers: chr7:g.100224422C>T (hg19) ; chr7:g.100626799C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626799C>T , CM000669.2:g.100626799C>T	GRCh38
NC_000007.13:g.100224422C>T , CM000669.1:g.100224422C>T	GRCh37
NC_000007.12:g.100062358C>T	NCBI36
NG_007989.1:g.19752G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2100G>A MANE Select	ENSP00000223051.3:p.Glu700=
ENST00000223051.7:c.2100G>A	ENSP00000223051.3:p.Glu700=
ENST00000431692.5:c.*775G>A	ENSP00000413905.1:n.*775G>A
ENST00000461176.1:n.446G>A
ENST00000462090.5:n.1136G>A
ENST00000462107.1:c.2100G>A	ENSP00000420525.1:p.Glu700=
ENST00000465294.5:n.2020G>A
ENST00000476304.5:n.1721G>A
ENST00000490084.5:c.1453G>A
NM_001206855.1:c.1587G>A	NP_001193784.1:p.Glu529=
NM_003227.3:c.2100G>A	NP_003218.2:p.Glu700=
XM_005250553.3:c.2100G>A	XP_005250610.1:p.Glu700=
XM_005250554.3:c.2100G>A	XP_005250611.1:p.Glu700=
XR_927814.1:n.433+4245C>T
NM_001206855.2:c.1587G>A	NP_001193784.1:p.Glu529=
XM_005250553.4:c.2100G>A	XP_005250610.1:p.Glu700=
XM_017012573.1:c.2100G>A	XP_016868062.1:p.Glu700=
NM_003227.4:c.2100G>A MANE Select	NP_003218.2:p.Glu700=
NM_001206855.3:c.1587G>A	NP_001193784.1:p.Glu529=