Canonical Allele Identifier: CA368522700

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1961721
• ClinVar RCV Id: RCV002720890
• dbSNP Id: rs1562837528
• gnomAD v4: 7-100626788-C-T
• MyVariant Identifiers: chr7:g.100224411C>T (hg19) ; chr7:g.100626788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626788C>T , CM000669.2:g.100626788C>T	GRCh38
NC_000007.13:g.100224411C>T , CM000669.1:g.100224411C>T	GRCh37
NC_000007.12:g.100062347C>T	NCBI36
NG_007989.1:g.19763G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2111G>A MANE Select	ENSP00000223051.3:p.Arg704His
ENST00000223051.7:c.2111G>A	ENSP00000223051.3:p.Arg704His
ENST00000431692.5:c.*786G>A	ENSP00000413905.1:n.*786G>A
ENST00000461176.1:n.457G>A
ENST00000462090.5:n.1147G>A
ENST00000462107.1:c.2111G>A	ENSP00000420525.1:p.Arg704His
ENST00000465294.5:n.2031G>A
ENST00000476304.5:n.1732G>A
ENST00000490084.5:c.1464G>A
NM_001206855.1:c.1598G>A	NP_001193784.1:p.Arg533His
NM_003227.3:c.2111G>A	NP_003218.2:p.Arg704His
XM_005250553.3:c.2111G>A	XP_005250610.1:p.Arg704His
XM_005250554.3:c.2111G>A	XP_005250611.1:p.Arg704His
XR_927814.1:n.433+4234C>T
NM_001206855.2:c.1598G>A	NP_001193784.1:p.Arg533His
XM_005250553.4:c.2111G>A	XP_005250610.1:p.Arg704His
XM_017012573.1:c.2111G>A	XP_016868062.1:p.Arg704His
NM_003227.4:c.2111G>A MANE Select	NP_003218.2:p.Arg704His
NM_001206855.3:c.1598G>A	NP_001193784.1:p.Arg533His