Canonical Allele Identifier: CA10103676
Community Standard Title: NM_006440.5(TXNRD2):c.1370dup (p.Gln458ThrfsTer?)
Gene: TXNRD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19878169dup , CM000684.2:g.19878169dup GRCh38
NC_000022.10:g.19865692dup , CM000684.1:g.19865692dup GRCh37
NC_000022.9:g.18245692dup NCBI36
NG_011835.1:g.68672dup , LRG_417:g.68672dup

Transcript Alleles

HGVS Amino-acid Change
NM_006440.5:c.1370dup MANE Select NP_006431.2:p.Gln458ThrfsTer?
ENST00000400521.7:c.1370dup MANE Select ENSP00000383365.1:p.Gln458ThrfsTer?
NM_001352300.1:c.1367dup NP_001339229.1:p.Gln457ThrfsTer?
NM_001352300.2:c.1367dup NP_001339229.1:p.Gln457ThrfsTer?
NM_001352301.1:c.1280dup NP_001339230.1:p.Gln428ThrfsTer?
NM_001352301.2:c.1280dup NP_001339230.1:p.Gln428ThrfsTer?
NM_001352302.1:c.1082dup NP_001339231.1:p.Gln362ThrfsTer?
NM_001352302.2:c.1082dup NP_001339231.1:p.Gln362ThrfsTer?
NM_006440.4:c.1370dup NP_006431.2:p.Gln458ThrfsTer?
NR_147957.1:n.1502dup
NR_147957.2:n.1328dup
ENST00000400518.5:c.1280dup ENSP00000383362.1:p.Gln428ThrfsTer?
ENST00000400519.6:c.1367dup ENSP00000383363.1:p.Gln457ThrfsTer?
ENST00000400521.6:c.1370dup ENSP00000383365.1:p.Gln458ThrfsTer?
ENST00000400525.6:c.1301dup ENSP00000383369.3:p.Gln435ThrfsTer?
ENST00000462330.5:c.293dup ENSP00000485603.2:p.Gln99ThrfsTer?
ENST00000462843.2:c.320dup ENSP00000485466.2:p.Gln108ThrfsTer?
ENST00000474308.5:c.1313dup ENSP00000485665.1:p.Gln439ThrfsTer?
ENST00000485358.5:c.338dup ENSP00000485499.2:p.Gln114ThrfsTer?
ENST00000487165.5:n.1464dup
ENST00000494454.5:n.1444dup
ENST00000495655.2:n.914dup
ENST00000542719.6:c.1082dup ENSP00000485128.2:p.Gln362ThrfsTer?
ENST00000634471.1:n.431dup
ENST00000634537.1:c.599dup ENSP00000489208.1:p.Gln201ThrfsTer?