Canonical Allele Identifier: CA410693812
Gene: TXNRD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19918915T>G , CM000684.2:g.19918915T>G GRCh38
NC_000022.10:g.19906438T>G , CM000684.1:g.19906438T>G GRCh37
NC_000022.9:g.18286438T>G NCBI36
NG_011835.1:g.27922A>C , LRG_417:g.27922A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.319A>C MANE Select ENSP00000383365.1:p.Ile107Leu
ENST00000334363.14:c.319A>C ENSP00000334451.9:p.Ile107Leu
ENST00000400518.5:c.229A>C ENSP00000383362.1:p.Ile77Leu
ENST00000400519.6:c.316A>C ENSP00000383363.1:p.Ile106Leu
ENST00000400521.6:c.319A>C ENSP00000383365.1:p.Ile107Leu
ENST00000400525.6:c.250A>C ENSP00000383369.3:p.Ile84Leu
ENST00000474308.5:c.262A>C ENSP00000485665.1:p.Ile88Leu
ENST00000491939.6:c.223A>C ENSP00000485543.1:p.Ile75Leu
ENST00000496729.2:n.324A>C
ENST00000542719.6:c.31A>C ENSP00000485128.2:p.Ile11Leu
NM_001282512.1:c.319A>C NP_001269441.1:p.Ile107Leu
NM_006440.4:c.319A>C NP_006431.2:p.Ile107Leu
NM_001282512.2:c.319A>C NP_001269441.1:p.Ile107Leu
NM_001352300.1:c.316A>C NP_001339229.1:p.Ile106Leu
NM_001352301.1:c.229A>C NP_001339230.1:p.Ile77Leu
NM_001352302.1:c.31A>C NP_001339231.1:p.Ile11Leu
NM_001352303.1:c.223A>C NP_001339232.1:p.Ile75Leu
NR_147957.1:n.451A>C
NM_006440.5:c.319A>C MANE Select NP_006431.2:p.Ile107Leu
NM_001282512.3:c.319A>C NP_001269441.1:p.Ile107Leu
NM_001352300.2:c.316A>C NP_001339229.1:p.Ile106Leu
NR_147957.2:n.277A>C
NM_001352301.2:c.229A>C NP_001339230.1:p.Ile77Leu
NM_001352302.2:c.31A>C NP_001339231.1:p.Ile11Leu
NM_001352303.2:c.223A>C NP_001339232.1:p.Ile75Leu