Canonical Allele Identifier: CA368534351

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633296-A-T
• MyVariant Identifiers: chr7:g.100230919A>T (hg19) ; chr7:g.100633296A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633296A>T , CM000669.2:g.100633296A>T	GRCh38
NC_000007.13:g.100230919A>T , CM000669.1:g.100230919A>T	GRCh37
NC_000007.12:g.100068855A>T	NCBI36
NG_007989.1:g.13255T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.659T>A MANE Select	ENSP00000223051.3:p.Val220Asp
ENST00000223051.7:c.659T>A	ENSP00000223051.3:p.Val220Asp
ENST00000431692.5:c.659T>A	ENSP00000413905.1:p.Val220Asp
ENST00000462107.1:c.659T>A	ENSP00000420525.1:p.Val220Asp
ENST00000465294.5:n.664T>A
ENST00000473374.5:n.109T>A
ENST00000473571.1:n.113T>A
ENST00000475011.1:n.188T>A
ENST00000476304.5:n.280T>A
NM_001206855.1:c.146T>A	NP_001193784.1:p.Val49Asp
NM_003227.3:c.659T>A	NP_003218.2:p.Val220Asp
XM_005250553.3:c.659T>A	XP_005250610.1:p.Val220Asp
XM_005250554.3:c.659T>A	XP_005250611.1:p.Val220Asp
NM_001206855.2:c.146T>A	NP_001193784.1:p.Val49Asp
XM_005250553.4:c.659T>A	XP_005250610.1:p.Val220Asp
XM_017012573.1:c.659T>A	XP_016868062.1:p.Val220Asp
NM_003227.4:c.659T>A MANE Select	NP_003218.2:p.Val220Asp
NM_001206855.3:c.146T>A	NP_001193784.1:p.Val49Asp