Canonical Allele Identifier: CA368522062

Gene: TFR2

Linked Data

• gnomAD v4: 7-100621064-G-T
• MyVariant Identifiers: chr7:g.100218687G>T (hg19) ; chr7:g.100621064G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621064G>T , CM000669.2:g.100621064G>T	GRCh38
NC_000007.13:g.100218687G>T , CM000669.1:g.100218687G>T	GRCh37
NC_000007.12:g.100056623G>T	NCBI36
NG_007989.1:g.25487C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2199C>A MANE Select	ENSP00000223051.3:p.Phe733Leu
ENST00000223051.7:c.2199C>A	ENSP00000223051.3:p.Phe733Leu
ENST00000431692.5:c.*874C>A	ENSP00000413905.1:n.*874C>A
ENST00000462090.5:n.1235C>A
ENST00000462107.1:c.2199C>A	ENSP00000420525.1:p.Phe733Leu
ENST00000465294.5:n.2119C>A
ENST00000476304.5:n.1820C>A
ENST00000490084.5:c.1552C>A
NM_001206855.1:c.1686C>A	NP_001193784.1:p.Phe562Leu
NM_003227.3:c.2199C>A	NP_003218.2:p.Phe733Leu
XM_005250553.3:c.2199C>A	XP_005250610.1:p.Phe733Leu
NM_001206855.2:c.1686C>A	NP_001193784.1:p.Phe562Leu
XM_005250553.4:c.2199C>A	XP_005250610.1:p.Phe733Leu
XM_017012573.1:c.2199C>A	XP_016868062.1:p.Phe733Leu
NM_003227.4:c.2199C>A MANE Select	NP_003218.2:p.Phe733Leu
NM_001206855.3:c.1686C>A	NP_001193784.1:p.Phe562Leu