Canonical Allele Identifier: CA2506066547

Gene: TXNRD2

Linked Data

• gnomAD v4: 22-19918994-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918994_19918995insG , CM000684.2:g.19918994_19918995insG	GRCh38
NC_000022.10:g.19906517_19906518insG , CM000684.1:g.19906517_19906518insG	GRCh37
NC_000022.9:g.18286517_18286518insG	NCBI36
NG_011835.1:g.27842_27843insC , LRG_417:g.27842_27843insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.239_240insC MANE Select	ENSP00000383365.1:p.Trp80CysfsTer?
ENST00000334363.14:c.239_240insC	ENSP00000334451.9:p.Trp80CysfsTer?
ENST00000400518.5:c.149_150insC	ENSP00000383362.1:p.Trp50CysfsTer?
ENST00000400519.6:c.236_237insC	ENSP00000383363.1:p.Trp79CysfsTer?
ENST00000400521.6:c.239_240insC	ENSP00000383365.1:p.Trp80CysfsTer?
ENST00000400525.6:c.170_171insC	ENSP00000383369.3:p.Trp57CysfsTer?
ENST00000474308.5:c.182_183insC	ENSP00000485665.1:p.Trp61CysfsTer?
ENST00000491939.6:c.143_144insC	ENSP00000485543.1:p.Trp48CysfsTer?
ENST00000496729.2:n.244_245insC
ENST00000542719.6:c.-50_-49insC	ENSP00000485128.2:n.-50_-49insC
NM_001282512.1:c.239_240insC	NP_001269441.1:p.Trp80CysfsTer?
NM_006440.4:c.239_240insC	NP_006431.2:p.Trp80CysfsTer?
NM_001282512.2:c.239_240insC	NP_001269441.1:p.Trp80CysfsTer?
NM_001352300.1:c.236_237insC	NP_001339229.1:p.Trp79CysfsTer?
NM_001352301.1:c.149_150insC	NP_001339230.1:p.Trp50CysfsTer?
NM_001352302.1:c.-50_-49insC	NP_001339231.1:n.-50_-49insC
NM_001352303.1:c.143_144insC	NP_001339232.1:p.Trp48CysfsTer?
NR_147957.1:n.371_372insC
NM_006440.5:c.239_240insC MANE Select	NP_006431.2:p.Trp80CysfsTer?
NM_001282512.3:c.239_240insC	NP_001269441.1:p.Trp80CysfsTer?
NM_001352300.2:c.236_237insC	NP_001339229.1:p.Trp79CysfsTer?
NR_147957.2:n.197_198insC
NM_001352301.2:c.149_150insC	NP_001339230.1:p.Trp50CysfsTer?
NM_001352302.2:c.-50_-49insC	NP_001339231.1:n.-50_-49insC
NM_001352303.2:c.143_144insC	NP_001339232.1:p.Trp48CysfsTer?