Canonical Allele Identifier: CA368533513

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633004-C-A
• MyVariant Identifiers: chr7:g.100230627C>A (hg19) ; chr7:g.100633004C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633004C>A , CM000669.2:g.100633004C>A	GRCh38
NC_000007.13:g.100230627C>A , CM000669.1:g.100230627C>A	GRCh37
NC_000007.12:g.100068563C>A	NCBI36
NG_007989.1:g.13547G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.846G>T MANE Select	ENSP00000223051.3:p.Gln282His
ENST00000223051.7:c.846G>T	ENSP00000223051.3:p.Gln282His
ENST00000431692.5:c.846G>T	ENSP00000413905.1:p.Gln282His
ENST00000462090.5:n.87G>T
ENST00000462107.1:c.846G>T	ENSP00000420525.1:p.Gln282His
ENST00000465294.5:n.851G>T
ENST00000473374.5:n.296G>T
ENST00000473571.1:n.300G>T
ENST00000475011.1:n.375G>T
ENST00000476304.5:n.467G>T
ENST00000490084.5:c.101G>T
NM_001206855.1:c.333G>T	NP_001193784.1:p.Gln111His
NM_003227.3:c.846G>T	NP_003218.2:p.Gln282His
XM_005250553.3:c.846G>T	XP_005250610.1:p.Gln282His
XM_005250554.3:c.846G>T	XP_005250611.1:p.Gln282His
XR_927814.1:n.585C>A
NM_001206855.2:c.333G>T	NP_001193784.1:p.Gln111His
XM_005250553.4:c.846G>T	XP_005250610.1:p.Gln282His
XM_017012573.1:c.846G>T	XP_016868062.1:p.Gln282His
NM_003227.4:c.846G>T MANE Select	NP_003218.2:p.Gln282His
NM_001206855.3:c.333G>T	NP_001193784.1:p.Gln111His