Canonical Allele Identifier: CA513369076
Gene: TXNRD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19906448C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19918925C>A , CM000684.2:g.19918925C>A GRCh38
NC_000022.10:g.19906448C>A , CM000684.1:g.19906448C>A GRCh37
NC_000022.9:g.18286448C>A NCBI36
NG_011835.1:g.27912G>T , LRG_417:g.27912G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.309G>T MANE Select ENSP00000383365.1:p.Leu103=
ENST00000334363.14:c.309G>T ENSP00000334451.9:p.Leu103=
ENST00000400518.5:c.219G>T ENSP00000383362.1:p.Leu73=
ENST00000400519.6:c.306G>T ENSP00000383363.1:p.Leu102=
ENST00000400521.6:c.309G>T ENSP00000383365.1:p.Leu103=
ENST00000400525.6:c.240G>T ENSP00000383369.3:p.Leu80=
ENST00000474308.5:c.252G>T ENSP00000485665.1:p.Leu84=
ENST00000491939.6:c.213G>T ENSP00000485543.1:p.Leu71=
ENST00000496729.2:n.314G>T
ENST00000542719.6:c.21G>T ENSP00000485128.2:p.Leu7=
NM_001282512.1:c.309G>T NP_001269441.1:p.Leu103=
NM_006440.4:c.309G>T NP_006431.2:p.Leu103=
NM_001282512.2:c.309G>T NP_001269441.1:p.Leu103=
NM_001352300.1:c.306G>T NP_001339229.1:p.Leu102=
NM_001352301.1:c.219G>T NP_001339230.1:p.Leu73=
NM_001352302.1:c.21G>T NP_001339231.1:p.Leu7=
NM_001352303.1:c.213G>T NP_001339232.1:p.Leu71=
NR_147957.1:n.441G>T
NM_006440.5:c.309G>T MANE Select NP_006431.2:p.Leu103=
NM_001282512.3:c.309G>T NP_001269441.1:p.Leu103=
NM_001352300.2:c.306G>T NP_001339229.1:p.Leu102=
NR_147957.2:n.267G>T
NM_001352301.2:c.219G>T NP_001339230.1:p.Leu73=
NM_001352302.2:c.21G>T NP_001339231.1:p.Leu7=
NM_001352303.2:c.213G>T NP_001339232.1:p.Leu71=