Canonical Allele Identifier: CA513361614
Gene: TXNRD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19868160C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19880637C>G , CM000684.2:g.19880637C>G GRCh38
NC_000022.10:g.19868160C>G , CM000684.1:g.19868160C>G GRCh37
NC_000022.9:g.18248160C>G NCBI36
NG_011835.1:g.66200G>C , LRG_417:g.66200G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400521.7:c.1167G>C MANE Select ENSP00000383365.1:p.Leu389=
ENST00000400518.5:c.1077G>C ENSP00000383362.1:p.Leu359=
ENST00000400519.6:c.1164G>C ENSP00000383363.1:p.Leu388=
ENST00000400521.6:c.1167G>C ENSP00000383365.1:p.Leu389=
ENST00000400525.6:c.1098G>C ENSP00000383369.3:p.Leu366=
ENST00000462330.5:c.90G>C ENSP00000485603.2:p.Leu30=
ENST00000462843.2:c.117G>C ENSP00000485466.2:p.Leu39=
ENST00000474308.5:c.1110G>C ENSP00000485665.1:p.Leu370=
ENST00000485358.5:c.135G>C ENSP00000485499.2:p.Leu45=
ENST00000487165.5:n.1261G>C
ENST00000494454.5:n.1241G>C
ENST00000495655.2:n.711G>C
ENST00000542719.6:c.879G>C ENSP00000485128.2:p.Leu293=
ENST00000634471.1:n.244-366G>C
ENST00000634537.1:c.396G>C ENSP00000489208.1:p.Leu132=
NM_006440.4:c.1167G>C NP_006431.2:p.Leu389=
NM_001352300.1:c.1164G>C NP_001339229.1:p.Leu388=
NM_001352301.1:c.1077G>C NP_001339230.1:p.Leu359=
NM_001352302.1:c.879G>C NP_001339231.1:p.Leu293=
NR_147957.1:n.1299G>C
NM_006440.5:c.1167G>C MANE Select NP_006431.2:p.Leu389=
NM_001352300.2:c.1164G>C NP_001339229.1:p.Leu388=
NR_147957.2:n.1125G>C
NM_001352301.2:c.1077G>C NP_001339230.1:p.Leu359=
NM_001352302.2:c.879G>C NP_001339231.1:p.Leu293=