Canonical Allele Identifier: CA1105041646

Gene: TFR2

Linked Data

• dbSNP Id: rs1803502856
• gnomAD v3: 7-100633284-AGCT-A
• gnomAD v4: 7-100633284-AGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633288_100633290del , CM000669.2:g.100633288_100633290del	GRCh38
NC_000007.13:g.100230911_100230913del , CM000669.1:g.100230911_100230913del	GRCh37
NC_000007.12:g.100068847_100068849del	NCBI36
NG_007989.1:g.13264_13266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.668_670del MANE Select	ENSP00000223051.3:p.Gln223del
ENST00000223051.7:c.668_670del	ENSP00000223051.3:p.Gln223del
ENST00000431692.5:c.668_670del	ENSP00000413905.1:p.Gln223del
ENST00000462107.1:c.668_670del	ENSP00000420525.1:p.Gln223del
ENST00000465294.5:n.673_675del
ENST00000473374.5:n.118_120del
ENST00000473571.1:n.122_124del
ENST00000475011.1:n.197_199del
ENST00000476304.5:n.289_291del
NM_001206855.1:c.155_157del	NP_001193784.1:p.Gln52del
NM_003227.3:c.668_670del	NP_003218.2:p.Gln223del
XM_005250553.3:c.668_670del	XP_005250610.1:p.Gln223del
XM_005250554.3:c.668_670del	XP_005250611.1:p.Gln223del
NM_001206855.2:c.155_157del	NP_001193784.1:p.Gln52del
XM_005250553.4:c.668_670del	XP_005250610.1:p.Gln223del
XM_017012573.1:c.668_670del	XP_016868062.1:p.Gln223del
NM_003227.4:c.668_670del MANE Select	NP_003218.2:p.Gln223del
NM_001206855.3:c.155_157del	NP_001193784.1:p.Gln52del