Canonical Allele Identifier: CA4386710

Gene: TFR2

Linked Data

• dbSNP Id: rs776828897
• ExAC: 7:100230699 G / C
• gnomAD v2: 7-100230699-G-C
• gnomAD v3: 7-100633076-G-C
• gnomAD v4: 7-100633076-G-C
• MyVariant Identifiers: chr7:g.100230699G>C (hg19) ; chr7:g.100633076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633076G>C , CM000669.2:g.100633076G>C	GRCh38
NC_000007.13:g.100230699G>C , CM000669.1:g.100230699G>C	GRCh37
NC_000007.12:g.100068635G>C	NCBI36
NG_007989.1:g.13475C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.774C>G MANE Select	ENSP00000223051.3:p.Asp258Glu
ENST00000223051.7:c.774C>G	ENSP00000223051.3:p.Asp258Glu
ENST00000431692.5:c.774C>G	ENSP00000413905.1:p.Asp258Glu
ENST00000462090.5:n.15C>G
ENST00000462107.1:c.774C>G	ENSP00000420525.1:p.Asp258Glu
ENST00000465294.5:n.779C>G
ENST00000473374.5:n.224C>G
ENST00000473571.1:n.228C>G
ENST00000475011.1:n.303C>G
ENST00000476304.5:n.395C>G
ENST00000490084.5:c.29C>G
NM_001206855.1:c.261C>G	NP_001193784.1:p.Asp87Glu
NM_003227.3:c.774C>G	NP_003218.2:p.Asp258Glu
XM_005250553.3:c.774C>G	XP_005250610.1:p.Asp258Glu
XM_005250554.3:c.774C>G	XP_005250611.1:p.Asp258Glu
NM_001206855.2:c.261C>G	NP_001193784.1:p.Asp87Glu
XM_005250553.4:c.774C>G	XP_005250610.1:p.Asp258Glu
XM_017012573.1:c.774C>G	XP_016868062.1:p.Asp258Glu
NM_003227.4:c.774C>G MANE Select	NP_003218.2:p.Asp258Glu
NM_001206855.3:c.261C>G	NP_001193784.1:p.Asp87Glu