Canonical Allele Identifier: CA2684105858

Gene: TFR2

Linked Data

• gnomAD v4: 7-100620701-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620705del , CM000669.2:g.100620705del	GRCh38
NC_000007.13:g.100218328del , CM000669.1:g.100218328del	GRCh37
NC_000007.12:g.100056264del	NCBI36
NG_007989.1:g.25849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*155del MANE Select	ENSP00000223051.3:n.*155del
ENST00000223051.7:c.*155del	ENSP00000223051.3:n.*155del
ENST00000431692.5:c.*1236del	ENSP00000413905.1:n.*1236del
ENST00000462090.5:n.1597del
ENST00000462107.1:c.*155del	ENSP00000420525.1:n.*155del
ENST00000465294.5:n.2481del
ENST00000476304.5:n.2182del
ENST00000490084.5:c.1914del
NM_001206855.1:c.*155del	NP_001193784.1:n.*155del
NM_003227.3:c.*155del	NP_003218.2:n.*155del
XM_005250553.3:c.*155del	XP_005250610.1:n.*155del
NM_001206855.2:c.*155del	NP_001193784.1:n.*155del
XM_005250553.4:c.*155del	XP_005250610.1:n.*155del
XM_017012573.1:c.*155del	XP_016868062.1:n.*155del
NM_003227.4:c.*155del MANE Select	NP_003218.2:n.*155del
NM_001206855.3:c.*155del	NP_001193784.1:n.*155del