Canonical Allele Identifier: CA10103774
Gene: TXNRD2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19880628G>A , CM000684.2:g.19880628G>A GRCh38
NC_000022.10:g.19868151G>A , CM000684.1:g.19868151G>A GRCh37
NC_000022.9:g.18248151G>A NCBI36
NG_011835.1:g.66209C>T , LRG_417:g.66209C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.1176C>T MANE Select ENSP00000383365.1:p.Tyr392=
ENST00000400518.5:c.1086C>T ENSP00000383362.1:p.Tyr362=
ENST00000400519.6:c.1173C>T ENSP00000383363.1:p.Tyr391=
ENST00000400521.6:c.1176C>T ENSP00000383365.1:p.Tyr392=
ENST00000400525.6:c.1107C>T ENSP00000383369.3:p.Tyr369=
ENST00000462330.5:c.99C>T ENSP00000485603.2:p.Tyr33=
ENST00000462843.2:c.126C>T ENSP00000485466.2:p.Tyr42=
ENST00000474308.5:c.1119C>T ENSP00000485665.1:p.Tyr373=
ENST00000485358.5:c.144C>T ENSP00000485499.2:p.Tyr48=
ENST00000487165.5:n.1270C>T
ENST00000494454.5:n.1250C>T
ENST00000495655.2:n.720C>T
ENST00000542719.6:c.888C>T ENSP00000485128.2:p.Tyr296=
ENST00000634471.1:n.244-357C>T
ENST00000634537.1:c.405C>T ENSP00000489208.1:p.Tyr135=
NM_006440.4:c.1176C>T NP_006431.2:p.Tyr392=
NM_001352300.1:c.1173C>T NP_001339229.1:p.Tyr391=
NM_001352301.1:c.1086C>T NP_001339230.1:p.Tyr362=
NM_001352302.1:c.888C>T NP_001339231.1:p.Tyr296=
NR_147957.1:n.1308C>T
NM_006440.5:c.1176C>T MANE Select NP_006431.2:p.Tyr392=
NM_001352300.2:c.1173C>T NP_001339229.1:p.Tyr391=
NR_147957.2:n.1134C>T
NM_001352301.2:c.1086C>T NP_001339230.1:p.Tyr362=
NM_001352302.2:c.888C>T NP_001339231.1:p.Tyr296=