Canonical Allele Identifier: CA2684106317

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626593-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626593T>C , CM000669.2:g.100626593T>C	GRCh38
NC_000007.13:g.100224216T>C , CM000669.1:g.100224216T>C	GRCh37
NC_000007.12:g.100062152T>C	NCBI36
NG_007989.1:g.19958A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2136+170A>G MANE Select	ENSP00000223051.3:n.2136+170A>G
ENST00000223051.7:c.2136+170A>G	ENSP00000223051.3:n.2136+170A>G
ENST00000431692.5:c.*811+170A>G	ENSP00000413905.1:n.*811+170A>G
ENST00000461176.1:n.652A>G
ENST00000462090.5:n.1172+170A>G
ENST00000462107.1:c.2136+170A>G	ENSP00000420525.1:n.2136+170A>G
ENST00000465294.5:n.2056+170A>G
ENST00000476304.5:n.1757+170A>G
ENST00000490084.5:c.1489+170A>G
NM_001206855.1:c.1623+170A>G	NP_001193784.1:n.1623+170A>G
NM_003227.3:c.2136+170A>G	NP_003218.2:n.2136+170A>G
XM_005250553.3:c.2136+170A>G	XP_005250610.1:n.2136+170A>G
XM_005250554.3:c.2167A>G	XP_005250611.1:p.Arg723Gly
XR_927814.1:n.433+4039T>C
NM_001206855.2:c.1623+170A>G	NP_001193784.1:n.1623+170A>G
XM_005250553.4:c.2136+170A>G	XP_005250610.1:n.2136+170A>G
XM_017012573.1:c.2136+170A>G	XP_016868062.1:n.2136+170A>G
NM_003227.4:c.2136+170A>G MANE Select	NP_003218.2:n.2136+170A>G
NM_001206855.3:c.1623+170A>G	NP_001193784.1:n.1623+170A>G