Canonical Allele Identifier: CA10103856
Community Standard Title: NM_006440.5(TXNRD2):c.1037G>A (p.Arg346Gln)
Gene: TXNRD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19883374C>T , CM000684.2:g.19883374C>T GRCh38
NC_000022.10:g.19870897C>T , CM000684.1:g.19870897C>T GRCh37
NC_000022.9:g.18250897C>T NCBI36
NG_011835.1:g.63463G>A , LRG_417:g.63463G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006440.5:c.1037G>A MANE Select NP_006431.2:p.Arg346Gln
ENST00000400521.7:c.1037G>A MANE Select ENSP00000383365.1:p.Arg346Gln
NM_001352300.1:c.1034G>A NP_001339229.1:p.Arg345Gln
NM_001352300.2:c.1034G>A NP_001339229.1:p.Arg345Gln
NM_001352301.1:c.947G>A NP_001339230.1:p.Arg316Gln
NM_001352301.2:c.947G>A NP_001339230.1:p.Arg316Gln
NM_001352302.1:c.749G>A NP_001339231.1:p.Arg250Gln
NM_001352302.2:c.749G>A NP_001339231.1:p.Arg250Gln
NM_006440.4:c.1037G>A NP_006431.2:p.Arg346Gln
NR_147957.1:n.1169G>A
NR_147957.2:n.995G>A
ENST00000400518.5:c.947G>A ENSP00000383362.1:p.Arg316Gln
ENST00000400519.6:c.1034G>A ENSP00000383363.1:p.Arg345Gln
ENST00000400521.6:c.1037G>A ENSP00000383365.1:p.Arg346Gln
ENST00000400525.6:c.968G>A ENSP00000383369.3:p.Arg323Gln
ENST00000474308.5:c.980G>A ENSP00000485665.1:p.Arg327Gln
ENST00000487165.5:n.1131G>A
ENST00000494454.5:n.1111G>A
ENST00000542719.6:c.749G>A ENSP00000485128.2:p.Arg250Gln
ENST00000634471.1:n.194G>A
ENST00000634537.1:c.266G>A ENSP00000489208.1:p.Arg89Gln