Canonical Allele Identifier: CA830501141

Gene: TFR2

Linked Data

• dbSNP Id: rs1228976456
• MyVariant Identifiers: chr7:g.100224404_100224411del (hg19) ; chr7:g.100626781_100626788del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626783_100626790del , CM000669.2:g.100626783_100626790del	GRCh38
NC_000007.13:g.100224406_100224413del , CM000669.1:g.100224406_100224413del	GRCh37
NC_000007.12:g.100062342_100062349del	NCBI36
NG_007989.1:g.19763_19770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2111_2118del MANE Select	ENSP00000223051.3:p.Arg704GlnfsTer?
ENST00000223051.7:c.2111_2118del	ENSP00000223051.3:p.Arg704GlnfsTer?
ENST00000431692.5:c.*786_*793del	ENSP00000413905.1:n.*786_*793del
ENST00000461176.1:n.457_464del
ENST00000462090.5:n.1147_1154del
ENST00000462107.1:c.2111_2118del	ENSP00000420525.1:p.Arg704GlnfsTer?
ENST00000465294.5:n.2031_2038del
ENST00000476304.5:n.1732_1739del
ENST00000490084.5:c.1464_1471del
NM_001206855.1:c.1598_1605del	NP_001193784.1:p.Arg533GlnfsTer?
NM_003227.3:c.2111_2118del	NP_003218.2:p.Arg704GlnfsTer?
XM_005250553.3:c.2111_2118del	XP_005250610.1:p.Arg704GlnfsTer?
XM_005250554.3:c.2111_2118del	XP_005250611.1:p.Arg704GlnfsTer14
XR_927814.1:n.433+4229_433+4236del
NM_001206855.2:c.1598_1605del	NP_001193784.1:p.Arg533GlnfsTer?
XM_005250553.4:c.2111_2118del	XP_005250610.1:p.Arg704GlnfsTer?
XM_017012573.1:c.2111_2118del	XP_016868062.1:p.Arg704GlnfsTer?
NM_003227.4:c.2111_2118del MANE Select	NP_003218.2:p.Arg704GlnfsTer?
NM_001206855.3:c.1598_1605del	NP_001193784.1:p.Arg533GlnfsTer?