Canonical Allele Identifier: CA891842876

Gene: TFR2

Linked Data

• ClinVar Variation Id: 581375
• ClinVar RCV Id: RCV000705183
• dbSNP Id: rs1562838535
• MyVariant Identifiers: chr7:g.100225221del (hg19) ; chr7:g.100627598del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627599del , CM000669.2:g.100627599del	GRCh38
NC_000007.13:g.100225222del , CM000669.1:g.100225222del	GRCh37
NC_000007.12:g.100063158del	NCBI36
NG_007989.1:g.18953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1746del MANE Select	ENSP00000223051.3:p.Val583SerfsTer?
ENST00000223051.7:c.1746del	ENSP00000223051.3:p.Val583SerfsTer?
ENST00000431692.5:c.*421del	ENSP00000413905.1:n.*421del
ENST00000461176.1:n.7del
ENST00000462090.5:n.697del
ENST00000462107.1:c.1746del	ENSP00000420525.1:p.Val583SerfsTer?
ENST00000465294.5:n.1581del
ENST00000473374.5:n.819del
ENST00000476304.5:n.1367del
ENST00000490084.5:c.1099del
NM_001206855.1:c.1233del	NP_001193784.1:p.Val412SerfsTer?
NM_003227.3:c.1746del	NP_003218.2:p.Val583SerfsTer?
XM_005250553.3:c.1746del	XP_005250610.1:p.Val583SerfsTer?
XM_005250554.3:c.1746del	XP_005250611.1:p.Val583SerfsTer?
XR_927814.1:n.434-3557del
NM_001206855.2:c.1233del	NP_001193784.1:p.Val412SerfsTer?
XM_005250553.4:c.1746del	XP_005250610.1:p.Val583SerfsTer?
XM_017012573.1:c.1746del	XP_016868062.1:p.Val583SerfsTer?
NM_003227.4:c.1746del MANE Select	NP_003218.2:p.Val583SerfsTer?
NM_001206855.3:c.1233del	NP_001193784.1:p.Val412SerfsTer?