Canonical Allele Identifier: CA2684105822

Gene: TFR2

Linked Data

• gnomAD v4: 7-100620679-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620683del , CM000669.2:g.100620683del	GRCh38
NC_000007.13:g.100218306del , CM000669.1:g.100218306del	GRCh37
NC_000007.12:g.100056242del	NCBI36
NG_007989.1:g.25871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*177del MANE Select	ENSP00000223051.3:n.*177del
ENST00000223051.7:c.*177del	ENSP00000223051.3:n.*177del
ENST00000431692.5:c.*1258del	ENSP00000413905.1:n.*1258del
ENST00000462090.5:n.1619del
ENST00000462107.1:c.*177del	ENSP00000420525.1:n.*177del
ENST00000465294.5:n.2503del
ENST00000476304.5:n.2204del
ENST00000490084.5:c.1936del
NM_001206855.1:c.*177del	NP_001193784.1:n.*177del
NM_003227.3:c.*177del	NP_003218.2:n.*177del
XM_005250553.3:c.*177del	XP_005250610.1:n.*177del
NM_001206855.2:c.*177del	NP_001193784.1:n.*177del
XM_005250553.4:c.*177del	XP_005250610.1:n.*177del
XM_017012573.1:c.*177del	XP_016868062.1:n.*177del
NM_003227.4:c.*177del MANE Select	NP_003218.2:n.*177del
NM_001206855.3:c.*177del	NP_001193784.1:n.*177del