Canonical Allele Identifier: CA410693995
Gene: TXNRD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19918969C>A , CM000684.2:g.19918969C>A GRCh38
NC_000022.10:g.19906492C>A , CM000684.1:g.19906492C>A GRCh37
NC_000022.9:g.18286492C>A NCBI36
NG_011835.1:g.27868G>T , LRG_417:g.27868G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.265G>T MANE Select ENSP00000383365.1:p.Val89Leu
ENST00000334363.14:c.265G>T ENSP00000334451.9:p.Val89Leu
ENST00000400518.5:c.175G>T ENSP00000383362.1:p.Val59Leu
ENST00000400519.6:c.262G>T ENSP00000383363.1:p.Val88Leu
ENST00000400521.6:c.265G>T ENSP00000383365.1:p.Val89Leu
ENST00000400525.6:c.196G>T ENSP00000383369.3:p.Val66Leu
ENST00000474308.5:c.208G>T ENSP00000485665.1:p.Val70Leu
ENST00000491939.6:c.169G>T ENSP00000485543.1:p.Val57Leu
ENST00000496729.2:n.270G>T
ENST00000542719.6:c.-24G>T ENSP00000485128.2:n.-24G>T
NM_001282512.1:c.265G>T NP_001269441.1:p.Val89Leu
NM_006440.4:c.265G>T NP_006431.2:p.Val89Leu
NM_001282512.2:c.265G>T NP_001269441.1:p.Val89Leu
NM_001352300.1:c.262G>T NP_001339229.1:p.Val88Leu
NM_001352301.1:c.175G>T NP_001339230.1:p.Val59Leu
NM_001352302.1:c.-24G>T NP_001339231.1:n.-24G>T
NM_001352303.1:c.169G>T NP_001339232.1:p.Val57Leu
NR_147957.1:n.397G>T
NM_006440.5:c.265G>T MANE Select NP_006431.2:p.Val89Leu
NM_001282512.3:c.265G>T NP_001269441.1:p.Val89Leu
NM_001352300.2:c.262G>T NP_001339229.1:p.Val88Leu
NR_147957.2:n.223G>T
NM_001352301.2:c.175G>T NP_001339230.1:p.Val59Leu
NM_001352302.2:c.-24G>T NP_001339231.1:n.-24G>T
NM_001352303.2:c.169G>T NP_001339232.1:p.Val57Leu