Canonical Allele Identifier: CA368524390

Gene: TFR2

Linked Data

• gnomAD v4: 7-100627300-G-T
• MyVariant Identifiers: chr7:g.100224923G>T (hg19) ; chr7:g.100627300G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627300G>T , CM000669.2:g.100627300G>T	GRCh38
NC_000007.13:g.100224923G>T , CM000669.1:g.100224923G>T	GRCh37
NC_000007.12:g.100062859G>T	NCBI36
NG_007989.1:g.19251C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1959C>A MANE Select	ENSP00000223051.3:p.His653Gln
ENST00000223051.7:c.1959C>A	ENSP00000223051.3:p.His653Gln
ENST00000431692.5:c.*634C>A	ENSP00000413905.1:n.*634C>A
ENST00000461176.1:n.305C>A
ENST00000462090.5:n.995C>A
ENST00000462107.1:c.1959C>A	ENSP00000420525.1:p.His653Gln
ENST00000465294.5:n.1879C>A
ENST00000476304.5:n.1580C>A
ENST00000490084.5:c.1312C>A
NM_001206855.1:c.1446C>A	NP_001193784.1:p.His482Gln
NM_003227.3:c.1959C>A	NP_003218.2:p.His653Gln
XM_005250553.3:c.1959C>A	XP_005250610.1:p.His653Gln
XM_005250554.3:c.1959C>A	XP_005250611.1:p.His653Gln
XR_927814.1:n.434-3856G>T
NM_001206855.2:c.1446C>A	NP_001193784.1:p.His482Gln
XM_005250553.4:c.1959C>A	XP_005250610.1:p.His653Gln
XM_017012573.1:c.1959C>A	XP_016868062.1:p.His653Gln
NM_003227.4:c.1959C>A MANE Select	NP_003218.2:p.His653Gln
NM_001206855.3:c.1446C>A	NP_001193784.1:p.His482Gln