Canonical Allele Identifier: CA513369078
Gene: TXNRD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19906451C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19918928C>G , CM000684.2:g.19918928C>G GRCh38
NC_000022.10:g.19906451C>G , CM000684.1:g.19906451C>G GRCh37
NC_000022.9:g.18286451C>G NCBI36
NG_011835.1:g.27909G>C , LRG_417:g.27909G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.306G>C MANE Select ENSP00000383365.1:p.Leu102=
ENST00000334363.14:c.306G>C ENSP00000334451.9:p.Leu102=
ENST00000400518.5:c.216G>C ENSP00000383362.1:p.Leu72=
ENST00000400519.6:c.303G>C ENSP00000383363.1:p.Leu101=
ENST00000400521.6:c.306G>C ENSP00000383365.1:p.Leu102=
ENST00000400525.6:c.237G>C ENSP00000383369.3:p.Leu79=
ENST00000474308.5:c.249G>C ENSP00000485665.1:p.Leu83=
ENST00000491939.6:c.210G>C ENSP00000485543.1:p.Leu70=
ENST00000496729.2:n.311G>C
ENST00000542719.6:c.18G>C ENSP00000485128.2:p.Leu6=
NM_001282512.1:c.306G>C NP_001269441.1:p.Leu102=
NM_006440.4:c.306G>C NP_006431.2:p.Leu102=
NM_001282512.2:c.306G>C NP_001269441.1:p.Leu102=
NM_001352300.1:c.303G>C NP_001339229.1:p.Leu101=
NM_001352301.1:c.216G>C NP_001339230.1:p.Leu72=
NM_001352302.1:c.18G>C NP_001339231.1:p.Leu6=
NM_001352303.1:c.210G>C NP_001339232.1:p.Leu70=
NR_147957.1:n.438G>C
NM_006440.5:c.306G>C MANE Select NP_006431.2:p.Leu102=
NM_001282512.3:c.306G>C NP_001269441.1:p.Leu102=
NM_001352300.2:c.303G>C NP_001339229.1:p.Leu101=
NR_147957.2:n.264G>C
NM_001352301.2:c.216G>C NP_001339230.1:p.Leu72=
NM_001352302.2:c.18G>C NP_001339231.1:p.Leu6=
NM_001352303.2:c.210G>C NP_001339232.1:p.Leu70=