Canonical Allele Identifier: CA368538653

Gene: TFR2

Linked Data

• gnomAD v4: 7-100641207-A-T
• MyVariant Identifiers: chr7:g.100238830A>T (hg19) ; chr7:g.100641207A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100641207A>T , CM000669.2:g.100641207A>T	GRCh38
NC_000007.13:g.100238830A>T , CM000669.1:g.100238830A>T	GRCh37
NC_000007.12:g.100076766A>T	NCBI36
NG_007989.1:g.5344T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.55T>A MANE Select	ENSP00000223051.3:p.Ser19Thr
ENST00000223051.7:c.55T>A	ENSP00000223051.3:p.Ser19Thr
ENST00000431692.5:c.55T>A	ENSP00000413905.1:p.Ser19Thr
ENST00000462107.1:c.55T>A	ENSP00000420525.1:p.Ser19Thr
ENST00000465294.5:n.60T>A
ENST00000474947.1:n.213T>A
NM_003227.3:c.55T>A	NP_003218.2:p.Ser19Thr
XM_005250553.3:c.55T>A	XP_005250610.1:p.Ser19Thr
XM_005250554.3:c.55T>A	XP_005250611.1:p.Ser19Thr
XM_005250553.4:c.55T>A	XP_005250610.1:p.Ser19Thr
XM_017012573.1:c.55T>A	XP_016868062.1:p.Ser19Thr
NM_003227.4:c.55T>A MANE Select	NP_003218.2:p.Ser19Thr