Canonical Allele Identifier: CA4386334

Gene: TFR2

Linked Data

• dbSNP Id: rs779989093
• ExAC: 7:100225393 GAAC / G
• gnomAD v2: 7-100225393-GAAC-G
• gnomAD v3: 7-100627770-GAAC-G
• gnomAD v4: 7-100627770-GAAC-G
• MyVariant Identifiers: chr7:g.100225394_100225396del (hg19) ; chr7:g.100627772_100627774del (hg38) ; chr7:g.100627771_100627773del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627772_100627774del , CM000669.2:g.100627772_100627774del	GRCh38
NC_000007.13:g.100225395_100225397del , CM000669.1:g.100225395_100225397del	GRCh37
NC_000007.12:g.100063331_100063333del	NCBI36
NG_007989.1:g.18778_18780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1653_1655del MANE Select	ENSP00000223051.3:p.Phe552del
ENST00000223051.7:c.1653_1655del	ENSP00000223051.3:p.Phe552del
ENST00000431692.5:c.*328_*330del	ENSP00000413905.1:n.*328_*330del
ENST00000462090.5:n.604_606del
ENST00000462107.1:c.1653_1655del	ENSP00000420525.1:p.Phe552del
ENST00000465294.5:n.1488_1490del
ENST00000473374.5:n.726_728del
ENST00000473963.1:n.682_684del
ENST00000476304.5:n.1274_1276del
ENST00000490084.5:c.1006_1008del
NM_001206855.1:c.1140_1142del	NP_001193784.1:p.Phe381del
NM_003227.3:c.1653_1655del	NP_003218.2:p.Phe552del
XM_005250553.3:c.1653_1655del	XP_005250610.1:p.Phe552del
XM_005250554.3:c.1653_1655del	XP_005250611.1:p.Phe552del
XR_927814.1:n.434-3384_434-3382del
NM_001206855.2:c.1140_1142del	NP_001193784.1:p.Phe381del
XM_005250553.4:c.1653_1655del	XP_005250610.1:p.Phe552del
XM_017012573.1:c.1653_1655del	XP_016868062.1:p.Phe552del
NM_003227.4:c.1653_1655del MANE Select	NP_003218.2:p.Phe552del
NM_001206855.3:c.1140_1142del	NP_001193784.1:p.Phe381del