Canonical Allele Identifier: CA1024148061

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1237329427
• gnomAD v3: 22-19919297-G-GCTATTCTCCTGCCTCAGCCTCC
• gnomAD v4: 22-19919297-G-GCTATTCTCCTGCCTCAGCCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19919297_19919298insCTATTCTCCTGCCTCAGCCTCC , CM000684.2:g.19919297_19919298insCTATTCTCCTGCCTCAGCCTCC	GRCh38
NC_000022.10:g.19906820_19906821insCTATTCTCCTGCCTCAGCCTCC , CM000684.1:g.19906820_19906821insCTATTCTCCTGCCTCAGCCTCC	GRCh37
NC_000022.9:g.18286820_18286821insCTATTCTCCTGCCTCAGCCTCC	NCBI36
NG_011835.1:g.27539_27540insGGAGGCTGAGGCAGGAGAATAG , LRG_417:g.27539_27540insGGAGGCTGAGGCAGGAGAATAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG MANE Select	ENSP00000383365.1:n.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG
ENST00000334363.14:c.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG	ENSP00000334451.9:n.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG
ENST00000400518.5:c.139+245_139+246insGGAGGCTGAGGCAGGAGAATAG	ENSP00000383362.1:n.139+245_139+246insGGAGGCTGAGGCAGGAGAATAG
ENST00000400519.6:c.226+245_226+246insGGAGGCTGAGGCAGGAGAATAG	ENSP00000383363.1:n.226+245_226+246insGGAGGCTGAGGCAGGAGAATAG
ENST00000400521.6:c.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG	ENSP00000383365.1:n.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG
ENST00000400525.6:c.160+245_160+246insGGAGGCTGAGGCAGGAGAATAG	ENSP00000383369.3:n.160+245_160+246insGGAGGCTGAGGCAGGAGAATAG
ENST00000474308.5:c.173-294_173-293insGGAGGCTGAGGCAGGAGAATAG	ENSP00000485665.1:n.173-294_173-293insGGAGGCTGAGGCAGGAGAATAG
ENST00000491939.6:c.133+245_133+246insGGAGGCTGAGGCAGGAGAATAG	ENSP00000485543.1:n.133+245_133+246insGGAGGCTGAGGCAGGAGAATAG
ENST00000496729.2:n.234+245_234+246insGGAGGCTGAGGCAGGAGAATAG
ENST00000542719.6:c.-60+245_-60+246insGGAGGCTGAGGCAGGAGAATAG	ENSP00000485128.2:n.-60+245_-60+246insGGAGGCTGAGGCAGGAGAATAG
NM_001282512.1:c.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG	NP_001269441.1:n.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG
NM_006440.4:c.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG	NP_006431.2:n.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG
NM_001282512.2:c.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG	NP_001269441.1:n.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG
NM_001352300.1:c.226+245_226+246insGGAGGCTGAGGCAGGAGAATAG	NP_001339229.1:n.226+245_226+246insGGAGGCTGAGGCAGGAGAATAG
NM_001352301.1:c.139+245_139+246insGGAGGCTGAGGCAGGAGAATAG	NP_001339230.1:n.139+245_139+246insGGAGGCTGAGGCAGGAGAATAG
NM_001352302.1:c.-60+245_-60+246insGGAGGCTGAGGCAGGAGAATAG	NP_001339231.1:n.-60+245_-60+246insGGAGGCTGAGGCAGGAGAATAG
NM_001352303.1:c.133+245_133+246insGGAGGCTGAGGCAGGAGAATAG	NP_001339232.1:n.133+245_133+246insGGAGGCTGAGGCAGGAGAATAG
NR_147957.1:n.362-294_362-293insGGAGGCTGAGGCAGGAGAATAG
NM_006440.5:c.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG MANE Select	NP_006431.2:n.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG
NM_001282512.3:c.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG	NP_001269441.1:n.229+245_229+246insGGAGGCTGAGGCAGGAGAATAG
NM_001352300.2:c.226+245_226+246insGGAGGCTGAGGCAGGAGAATAG	NP_001339229.1:n.226+245_226+246insGGAGGCTGAGGCAGGAGAATAG
NR_147957.2:n.188-294_188-293insGGAGGCTGAGGCAGGAGAATAG
NM_001352301.2:c.139+245_139+246insGGAGGCTGAGGCAGGAGAATAG	NP_001339230.1:n.139+245_139+246insGGAGGCTGAGGCAGGAGAATAG
NM_001352302.2:c.-60+245_-60+246insGGAGGCTGAGGCAGGAGAATAG	NP_001339231.1:n.-60+245_-60+246insGGAGGCTGAGGCAGGAGAATAG
NM_001352303.2:c.133+245_133+246insGGAGGCTGAGGCAGGAGAATAG	NP_001339232.1:n.133+245_133+246insGGAGGCTGAGGCAGGAGAATAG