Canonical Allele Identifier: CA2563175262

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626798_100626804del , CM000669.2:g.100626798_100626804del	GRCh38
NC_000007.13:g.100224421_100224427del , CM000669.1:g.100224421_100224427del	GRCh37
NC_000007.12:g.100062357_100062363del	NCBI36
NG_007989.1:g.19750_19756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2098_2104del MANE Select	ENSP00000223051.3:p.Glu700Ter
ENST00000223051.7:c.2098_2104del	ENSP00000223051.3:p.Glu700Ter
ENST00000431692.5:c.*773_*779del	ENSP00000413905.1:n.*773_*779del
ENST00000461176.1:n.444_450del
ENST00000462090.5:n.1134_1140del
ENST00000462107.1:c.2098_2104del	ENSP00000420525.1:p.Glu700Ter
ENST00000465294.5:n.2018_2024del
ENST00000476304.5:n.1719_1725del
ENST00000490084.5:c.1451_1457del
NM_001206855.1:c.1585_1591del	NP_001193784.1:p.Glu529Ter
NM_003227.3:c.2098_2104del	NP_003218.2:p.Glu700Ter
XM_005250553.3:c.2098_2104del	XP_005250610.1:p.Glu700Ter
XM_005250554.3:c.2098_2104del	XP_005250611.1:p.Glu700Ter
XR_927814.1:n.433+4244_433+4250del
NM_001206855.2:c.1585_1591del	NP_001193784.1:p.Glu529Ter
XM_005250553.4:c.2098_2104del	XP_005250610.1:p.Glu700Ter
XM_017012573.1:c.2098_2104del	XP_016868062.1:p.Glu700Ter
NM_003227.4:c.2098_2104del MANE Select	NP_003218.2:p.Glu700Ter
NM_001206855.3:c.1585_1591del	NP_001193784.1:p.Glu529Ter