Canonical Allele Identifier: CA2684105823

Gene: TFR2

Linked Data

• gnomAD v4: 7-100620679-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620682_100620683del , CM000669.2:g.100620682_100620683del	GRCh38
NC_000007.13:g.100218305_100218306del , CM000669.1:g.100218305_100218306del	GRCh37
NC_000007.12:g.100056241_100056242del	NCBI36
NG_007989.1:g.25870_25871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*176_*177del MANE Select	ENSP00000223051.3:n.*176_*177del
ENST00000223051.7:c.*176_*177del	ENSP00000223051.3:n.*176_*177del
ENST00000431692.5:c.*1257_*1258del	ENSP00000413905.1:n.*1257_*1258del
ENST00000462090.5:n.1618_1619del
ENST00000462107.1:c.*176_*177del	ENSP00000420525.1:n.*176_*177del
ENST00000465294.5:n.2502_2503del
ENST00000476304.5:n.2203_2204del
ENST00000490084.5:c.1935_1936del
NM_001206855.1:c.*176_*177del	NP_001193784.1:n.*176_*177del
NM_003227.3:c.*176_*177del	NP_003218.2:n.*176_*177del
XM_005250553.3:c.*176_*177del	XP_005250610.1:n.*176_*177del
NM_001206855.2:c.*176_*177del	NP_001193784.1:n.*176_*177del
XM_005250553.4:c.*176_*177del	XP_005250610.1:n.*176_*177del
XM_017012573.1:c.*176_*177del	XP_016868062.1:n.*176_*177del
NM_003227.4:c.*176_*177del MANE Select	NP_003218.2:n.*176_*177del
NM_001206855.3:c.*176_*177del	NP_001193784.1:n.*176_*177del