Canonical Allele Identifier: CA4386757

Gene: TFR2

Linked Data

• dbSNP Id: rs752715970
• ExAC: 7:100230913 T / TTC
• gnomAD v2: 7-100230913-T-TTC
• gnomAD v4: 7-100633290-T-TTC
• MyVariant Identifiers: chr7:g.100230913_100230914insTC (hg19) ; chr7:g.100633290_100633291insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633290_100633291insTC , CM000669.2:g.100633290_100633291insTC	GRCh38
NC_000007.13:g.100230913_100230914insTC , CM000669.1:g.100230913_100230914insTC	GRCh37
NC_000007.12:g.100068849_100068850insTC	NCBI36
NG_007989.1:g.13260_13261insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.664_665insGA MANE Select	ENSP00000223051.3:p.Glu222GlyfsTer?
ENST00000223051.7:c.664_665insGA	ENSP00000223051.3:p.Glu222GlyfsTer?
ENST00000431692.5:c.664_665insGA	ENSP00000413905.1:p.Glu222GlyfsTer?
ENST00000462107.1:c.664_665insGA	ENSP00000420525.1:p.Glu222GlyfsTer?
ENST00000465294.5:n.669_670insGA
ENST00000473374.5:n.114_115insGA
ENST00000473571.1:n.118_119insGA
ENST00000475011.1:n.193_194insGA
ENST00000476304.5:n.285_286insGA
NM_001206855.1:c.151_152insGA	NP_001193784.1:p.Glu51GlyfsTer?
NM_003227.3:c.664_665insGA	NP_003218.2:p.Glu222GlyfsTer?
XM_005250553.3:c.664_665insGA	XP_005250610.1:p.Glu222GlyfsTer?
XM_005250554.3:c.664_665insGA	XP_005250611.1:p.Glu222GlyfsTer?
NM_001206855.2:c.151_152insGA	NP_001193784.1:p.Glu51GlyfsTer?
XM_005250553.4:c.664_665insGA	XP_005250610.1:p.Glu222GlyfsTer?
XM_017012573.1:c.664_665insGA	XP_016868062.1:p.Glu222GlyfsTer?
NM_003227.4:c.664_665insGA MANE Select	NP_003218.2:p.Glu222GlyfsTer?
NM_001206855.3:c.151_152insGA	NP_001193784.1:p.Glu51GlyfsTer?