Canonical Allele Identifier: CA2988028850
Gene: TXNRD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19940472_19940473del , CM000684.2:g.19940472_19940473del GRCh38
NC_000022.10:g.19927995_19927996del , CM000684.1:g.19927995_19927996del GRCh37
NC_000022.9:g.18307995_18307996del NCBI36
NG_011526.1:g.3733_3734del
NG_011835.1:g.6364_6365del , LRG_417:g.6364_6365del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.103+1228_103+1229del MANE Select ENSP00000383365.1:n.103+1228_103+1229del
ENST00000334363.14:c.103+1228_103+1229del ENSP00000334451.9:n.103+1228_103+1229del
ENST00000400519.6:c.103+1228_103+1229del ENSP00000383363.1:n.103+1228_103+1229del
ENST00000400521.6:c.103+1228_103+1229del ENSP00000383365.1:n.103+1228_103+1229del
ENST00000400525.6:c.103+1228_103+1229del ENSP00000383369.3:n.103+1228_103+1229del
ENST00000474308.5:c.103+1228_103+1229del ENSP00000485665.1:n.103+1228_103+1229del
ENST00000496729.2:n.108+1228_108+1229del
NM_001282512.1:c.103+1228_103+1229del NP_001269441.1:n.103+1228_103+1229del
NM_006440.4:c.103+1228_103+1229del NP_006431.2:n.103+1228_103+1229del
NM_001282512.2:c.103+1228_103+1229del NP_001269441.1:n.103+1228_103+1229del
NM_001352300.1:c.103+1228_103+1229del NP_001339229.1:n.103+1228_103+1229del
NR_147957.1:n.292+1228_292+1229del
NM_006440.5:c.103+1228_103+1229del MANE Select NP_006431.2:n.103+1228_103+1229del
NM_001282512.3:c.103+1228_103+1229del NP_001269441.1:n.103+1228_103+1229del
NM_001352300.2:c.103+1228_103+1229del NP_001339229.1:n.103+1228_103+1229del
NR_147957.2:n.118+1228_118+1229del