Canonical Allele Identifier: CA456749215

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626790-T-G
• MyVariant Identifiers: chr7:g.100224413T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626790T>G , CM000669.2:g.100626790T>G	GRCh38
NC_000007.13:g.100224413T>G , CM000669.1:g.100224413T>G	GRCh37
NC_000007.12:g.100062349T>G	NCBI36
NG_007989.1:g.19761A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2109A>C MANE Select	ENSP00000223051.3:p.Thr703=
ENST00000223051.7:c.2109A>C	ENSP00000223051.3:p.Thr703=
ENST00000431692.5:c.*784A>C	ENSP00000413905.1:n.*784A>C
ENST00000461176.1:n.455A>C
ENST00000462090.5:n.1145A>C
ENST00000462107.1:c.2109A>C	ENSP00000420525.1:p.Thr703=
ENST00000465294.5:n.2029A>C
ENST00000476304.5:n.1730A>C
ENST00000490084.5:c.1462A>C
NM_001206855.1:c.1596A>C	NP_001193784.1:p.Thr532=
NM_003227.3:c.2109A>C	NP_003218.2:p.Thr703=
XM_005250553.3:c.2109A>C	XP_005250610.1:p.Thr703=
XM_005250554.3:c.2109A>C	XP_005250611.1:p.Thr703=
XR_927814.1:n.433+4236T>G
NM_001206855.2:c.1596A>C	NP_001193784.1:p.Thr532=
XM_005250553.4:c.2109A>C	XP_005250610.1:p.Thr703=
XM_017012573.1:c.2109A>C	XP_016868062.1:p.Thr703=
NM_003227.4:c.2109A>C MANE Select	NP_003218.2:p.Thr703=
NM_001206855.3:c.1596A>C	NP_001193784.1:p.Thr532=