Canonical Allele Identifier: CA830502212

Gene: TFR2

Linked Data

• dbSNP Id: rs1421477350
• MyVariant Identifiers: chr7:g.100225372_100225373insG (hg19) ; chr7:g.100627749_100627750insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627750dup , CM000669.2:g.100627750dup	GRCh38
NC_000007.13:g.100225373dup , CM000669.1:g.100225373dup	GRCh37
NC_000007.12:g.100063309dup	NCBI36
NG_007989.1:g.18801dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1676dup MANE Select	ENSP00000223051.3:p.Glu560Ter
ENST00000223051.7:c.1676dup	ENSP00000223051.3:p.Glu560Ter
ENST00000431692.5:c.*351dup	ENSP00000413905.1:n.*351dup
ENST00000462090.5:n.627dup
ENST00000462107.1:c.1676dup	ENSP00000420525.1:p.Glu560Ter
ENST00000465294.5:n.1511dup
ENST00000473374.5:n.749dup
ENST00000473963.1:n.705dup
ENST00000476304.5:n.1297dup
ENST00000490084.5:c.1029dup
NM_001206855.1:c.1163dup	NP_001193784.1:p.Glu389Ter
NM_003227.3:c.1676dup	NP_003218.2:p.Glu560Ter
XM_005250553.3:c.1676dup	XP_005250610.1:p.Glu560Ter
XM_005250554.3:c.1676dup	XP_005250611.1:p.Glu560Ter
XR_927814.1:n.434-3406dup
NM_001206855.2:c.1163dup	NP_001193784.1:p.Glu389Ter
XM_005250553.4:c.1676dup	XP_005250610.1:p.Glu560Ter
XM_017012573.1:c.1676dup	XP_016868062.1:p.Glu560Ter
NM_003227.4:c.1676dup MANE Select	NP_003218.2:p.Glu560Ter
NM_001206855.3:c.1163dup	NP_001193784.1:p.Glu389Ter