Canonical Allele Identifier: CA2684105961

Gene: TFR2

Linked Data

• gnomAD v4: 7-100621037-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621040del , CM000669.2:g.100621040del	GRCh38
NC_000007.13:g.100218663del , CM000669.1:g.100218663del	GRCh37
NC_000007.12:g.100056599del	NCBI36
NG_007989.1:g.25513del

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2225del MANE Select	ENSP00000223051.3:p.Gly742AlafsTer?
ENST00000223051.7:c.2225del	ENSP00000223051.3:p.Gly742AlafsTer?
ENST00000431692.5:c.*900del	ENSP00000413905.1:n.*900del
ENST00000462090.5:n.1261del
ENST00000462107.1:c.2225del	ENSP00000420525.1:p.Gly742AlafsTer?
ENST00000465294.5:n.2145del
ENST00000476304.5:n.1846del
ENST00000490084.5:c.1578del
NM_001206855.1:c.1712del	NP_001193784.1:p.Gly571AlafsTer?
NM_003227.3:c.2225del	NP_003218.2:p.Gly742AlafsTer?
XM_005250553.3:c.2225del	XP_005250610.1:p.Gly742AlafsTer?
NM_001206855.2:c.1712del	NP_001193784.1:p.Gly571AlafsTer?
XM_005250553.4:c.2225del	XP_005250610.1:p.Gly742AlafsTer?
XM_017012573.1:c.2225del	XP_016868062.1:p.Gly742AlafsTer?
NM_003227.4:c.2225del MANE Select	NP_003218.2:p.Gly742AlafsTer?
NM_001206855.3:c.1712del	NP_001193784.1:p.Gly571AlafsTer?