Canonical Allele Identifier: CA10103699
Gene: TXNRD2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19878372A>G , CM000684.2:g.19878372A>G GRCh38
NC_000022.10:g.19865895A>G , CM000684.1:g.19865895A>G GRCh37
NC_000022.9:g.18245895A>G NCBI36
NG_011835.1:g.68465T>C , LRG_417:g.68465T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.1341T>C MANE Select ENSP00000383365.1:p.Tyr447=
ENST00000400518.5:c.1251T>C ENSP00000383362.1:p.Tyr417=
ENST00000400519.6:c.1338T>C ENSP00000383363.1:p.Tyr446=
ENST00000400521.6:c.1341T>C ENSP00000383365.1:p.Tyr447=
ENST00000400525.6:c.1272T>C ENSP00000383369.3:p.Tyr424=
ENST00000462330.5:c.264T>C ENSP00000485603.2:p.Tyr88=
ENST00000462843.2:c.291T>C ENSP00000485466.2:p.Tyr97=
ENST00000474308.5:c.1284T>C ENSP00000485665.1:p.Tyr428=
ENST00000485358.5:c.309T>C ENSP00000485499.2:p.Tyr103=
ENST00000487165.5:n.1435T>C
ENST00000494454.5:n.1415T>C
ENST00000495655.2:n.885T>C
ENST00000542719.6:c.1053T>C ENSP00000485128.2:p.Tyr351=
ENST00000634471.1:n.402T>C
ENST00000634537.1:c.570T>C ENSP00000489208.1:p.Tyr190=
NM_006440.4:c.1341T>C NP_006431.2:p.Tyr447=
NM_001352300.1:c.1338T>C NP_001339229.1:p.Tyr446=
NM_001352301.1:c.1251T>C NP_001339230.1:p.Tyr417=
NM_001352302.1:c.1053T>C NP_001339231.1:p.Tyr351=
NR_147957.1:n.1473T>C
NM_006440.5:c.1341T>C MANE Select NP_006431.2:p.Tyr447=
NM_001352300.2:c.1338T>C NP_001339229.1:p.Tyr446=
NR_147957.2:n.1299T>C
NM_001352301.2:c.1251T>C NP_001339230.1:p.Tyr417=
NM_001352302.2:c.1053T>C NP_001339231.1:p.Tyr351=