Canonical Allele Identifier: CA456751808

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1654685
• ClinVar RCV Id: RCV002156243
• dbSNP Id: rs1228050493
• gnomAD v3: 7-100633529-T-G
• gnomAD v4: 7-100633529-T-G
• MyVariant Identifiers: chr7:g.100231152T>G (hg19) ; chr7:g.100633529T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633529T>G , CM000669.2:g.100633529T>G	GRCh38
NC_000007.13:g.100231152T>G , CM000669.1:g.100231152T>G	GRCh37
NC_000007.12:g.100069088T>G	NCBI36
NG_007989.1:g.13022A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.501A>C MANE Select	ENSP00000223051.3:p.Ala167=
ENST00000223051.7:c.501A>C	ENSP00000223051.3:p.Ala167=
ENST00000431692.5:c.501A>C	ENSP00000413905.1:p.Ala167=
ENST00000462107.1:c.501A>C	ENSP00000420525.1:p.Ala167=
ENST00000465294.5:n.506A>C
ENST00000475011.1:n.30A>C
ENST00000476304.5:n.122A>C
NM_001206855.1:c.-13A>C	NP_001193784.1:n.-13A>C
NM_003227.3:c.501A>C	NP_003218.2:p.Ala167=
XM_005250553.3:c.501A>C	XP_005250610.1:p.Ala167=
XM_005250554.3:c.501A>C	XP_005250611.1:p.Ala167=
NM_001206855.2:c.-13A>C	NP_001193784.1:n.-13A>C
XM_005250553.4:c.501A>C	XP_005250610.1:p.Ala167=
XM_017012573.1:c.501A>C	XP_016868062.1:p.Ala167=
NM_003227.4:c.501A>C MANE Select	NP_003218.2:p.Ala167=
NM_001206855.3:c.-13A>C	NP_001193784.1:n.-13A>C