Canonical Allele Identifier: CA2655329351

Gene: TXNRD2

Linked Data

• gnomAD v4: 22-19918897-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918898del , CM000684.2:g.19918898del	GRCh38
NC_000022.10:g.19906421del , CM000684.1:g.19906421del	GRCh37
NC_000022.9:g.18286421del	NCBI36
NG_011835.1:g.27939del , LRG_417:g.27939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.336del MANE Select	ENSP00000383365.1:p.Tyr113MetfsTer24
ENST00000334363.14:c.336del	ENSP00000334451.9:p.Tyr113MetfsTer24
ENST00000400518.5:c.246del	ENSP00000383362.1:p.Tyr83MetfsTer24
ENST00000400519.6:c.333del	ENSP00000383363.1:p.Tyr112MetfsTer24
ENST00000400521.6:c.336del	ENSP00000383365.1:p.Tyr113MetfsTer24
ENST00000400525.6:c.267del	ENSP00000383369.3:p.Tyr90MetfsTer24
ENST00000474308.5:c.279del	ENSP00000485665.1:p.Tyr94MetfsTer24
ENST00000491939.6:c.240del	ENSP00000485543.1:p.Tyr81MetfsTer24
ENST00000496729.2:n.341del
ENST00000542719.6:c.48del	ENSP00000485128.2:p.Tyr17MetfsTer24
NM_001282512.1:c.336del	NP_001269441.1:p.Tyr113MetfsTer24
NM_006440.4:c.336del	NP_006431.2:p.Tyr113MetfsTer24
NM_001282512.2:c.336del	NP_001269441.1:p.Tyr113MetfsTer24
NM_001352300.1:c.333del	NP_001339229.1:p.Tyr112MetfsTer24
NM_001352301.1:c.246del	NP_001339230.1:p.Tyr83MetfsTer24
NM_001352302.1:c.48del	NP_001339231.1:p.Tyr17MetfsTer24
NM_001352303.1:c.240del	NP_001339232.1:p.Tyr81MetfsTer24
NR_147957.1:n.468del
NM_006440.5:c.336del MANE Select	NP_006431.2:p.Tyr113MetfsTer24
NM_001282512.3:c.336del	NP_001269441.1:p.Tyr113MetfsTer24
NM_001352300.2:c.333del	NP_001339229.1:p.Tyr112MetfsTer24
NR_147957.2:n.294del
NM_001352301.2:c.246del	NP_001339230.1:p.Tyr83MetfsTer24
NM_001352302.2:c.48del	NP_001339231.1:p.Tyr17MetfsTer24
NM_001352303.2:c.240del	NP_001339232.1:p.Tyr81MetfsTer24