Canonical Allele Identifier: CA368522804

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626818-C-G
• MyVariant Identifiers: chr7:g.100224441C>G (hg19) ; chr7:g.100626818C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626818C>G , CM000669.2:g.100626818C>G	GRCh38
NC_000007.13:g.100224441C>G , CM000669.1:g.100224441C>G	GRCh37
NC_000007.12:g.100062377C>G	NCBI36
NG_007989.1:g.19733G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2081G>C MANE Select	ENSP00000223051.3:p.Ser694Thr
ENST00000223051.7:c.2081G>C	ENSP00000223051.3:p.Ser694Thr
ENST00000431692.5:c.*756G>C	ENSP00000413905.1:n.*756G>C
ENST00000461176.1:n.427G>C
ENST00000462090.5:n.1117G>C
ENST00000462107.1:c.2081G>C	ENSP00000420525.1:p.Ser694Thr
ENST00000465294.5:n.2001G>C
ENST00000476304.5:n.1702G>C
ENST00000490084.5:c.1434G>C
NM_001206855.1:c.1568G>C	NP_001193784.1:p.Ser523Thr
NM_003227.3:c.2081G>C	NP_003218.2:p.Ser694Thr
XM_005250553.3:c.2081G>C	XP_005250610.1:p.Ser694Thr
XM_005250554.3:c.2081G>C	XP_005250611.1:p.Ser694Thr
XR_927814.1:n.433+4264C>G
NM_001206855.2:c.1568G>C	NP_001193784.1:p.Ser523Thr
XM_005250553.4:c.2081G>C	XP_005250610.1:p.Ser694Thr
XM_017012573.1:c.2081G>C	XP_016868062.1:p.Ser694Thr
NM_003227.4:c.2081G>C MANE Select	NP_003218.2:p.Ser694Thr
NM_001206855.3:c.1568G>C	NP_001193784.1:p.Ser523Thr