Canonical Allele Identifier: CA410686581
Gene: TXNRD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19895476C>G , CM000684.2:g.19895476C>G GRCh38
NC_000022.10:g.19882999C>G , CM000684.1:g.19882999C>G GRCh37
NC_000022.9:g.18262999C>G NCBI36
NG_011835.1:g.51361G>C , LRG_417:g.51361G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.880G>C MANE Select ENSP00000383365.1:p.Val294Leu
ENST00000334363.14:c.880G>C ENSP00000334451.9:p.Val294Leu
ENST00000400518.5:c.790G>C ENSP00000383362.1:p.Val264Leu
ENST00000400519.6:c.877G>C ENSP00000383363.1:p.Val293Leu
ENST00000400521.6:c.880G>C ENSP00000383365.1:p.Val294Leu
ENST00000400525.6:c.811G>C ENSP00000383369.3:p.Val271Leu
ENST00000474308.5:c.823G>C ENSP00000485665.1:p.Val275Leu
ENST00000475995.3:c.377G>C
ENST00000491939.6:c.784G>C ENSP00000485543.1:p.Val262Leu
ENST00000494454.5:n.954G>C
ENST00000542719.6:c.592G>C ENSP00000485128.2:p.Val198Leu
ENST00000634537.1:c.109G>C ENSP00000489208.1:p.Val37Leu
ENST00000635155.1:n.466G>C
NM_001282512.1:c.880G>C NP_001269441.1:p.Val294Leu
NM_006440.4:c.880G>C NP_006431.2:p.Val294Leu
NM_001282512.2:c.880G>C NP_001269441.1:p.Val294Leu
NM_001352300.1:c.877G>C NP_001339229.1:p.Val293Leu
NM_001352301.1:c.790G>C NP_001339230.1:p.Val264Leu
NM_001352302.1:c.592G>C NP_001339231.1:p.Val198Leu
NM_001352303.1:c.784G>C NP_001339232.1:p.Val262Leu
NR_147957.1:n.1012G>C
NM_006440.5:c.880G>C MANE Select NP_006431.2:p.Val294Leu
NM_001282512.3:c.880G>C NP_001269441.1:p.Val294Leu
NM_001352300.2:c.877G>C NP_001339229.1:p.Val293Leu
NR_147957.2:n.838G>C
NM_001352301.2:c.790G>C NP_001339230.1:p.Val264Leu
NM_001352302.2:c.592G>C NP_001339231.1:p.Val198Leu
NM_001352303.2:c.784G>C NP_001339232.1:p.Val262Leu