Canonical Allele Identifier: CA368525165

Gene: TFR2

Linked Data

• gnomAD v4: 7-100627424-T-C
• MyVariant Identifiers: chr7:g.100225047T>C (hg19) ; chr7:g.100627424T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627424T>C , CM000669.2:g.100627424T>C	GRCh38
NC_000007.13:g.100225047T>C , CM000669.1:g.100225047T>C	GRCh37
NC_000007.12:g.100062983T>C	NCBI36
NG_007989.1:g.19127A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1835A>G MANE Select	ENSP00000223051.3:p.Gln612Arg
ENST00000223051.7:c.1835A>G	ENSP00000223051.3:p.Gln612Arg
ENST00000431692.5:c.*510A>G	ENSP00000413905.1:n.*510A>G
ENST00000461176.1:n.181A>G
ENST00000462090.5:n.871A>G
ENST00000462107.1:c.1835A>G	ENSP00000420525.1:p.Gln612Arg
ENST00000465294.5:n.1755A>G
ENST00000476304.5:n.1456A>G
ENST00000490084.5:c.1188A>G
NM_001206855.1:c.1322A>G	NP_001193784.1:p.Gln441Arg
NM_003227.3:c.1835A>G	NP_003218.2:p.Gln612Arg
XM_005250553.3:c.1835A>G	XP_005250610.1:p.Gln612Arg
XM_005250554.3:c.1835A>G	XP_005250611.1:p.Gln612Arg
XR_927814.1:n.434-3732T>C
NM_001206855.2:c.1322A>G	NP_001193784.1:p.Gln441Arg
XM_005250553.4:c.1835A>G	XP_005250610.1:p.Gln612Arg
XM_017012573.1:c.1835A>G	XP_016868062.1:p.Gln612Arg
NM_003227.4:c.1835A>G MANE Select	NP_003218.2:p.Gln612Arg
NM_001206855.3:c.1322A>G	NP_001193784.1:p.Gln441Arg