Canonical Allele Identifier: CA410693793

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1940761419
• gnomAD v4: 22-19918911-T-C
• MyVariant Identifiers: chr22:g.19906434T>C (hg19) ; chr22:g.19918911T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918911T>C , CM000684.2:g.19918911T>C	GRCh38
NC_000022.10:g.19906434T>C , CM000684.1:g.19906434T>C	GRCh37
NC_000022.9:g.18286434T>C	NCBI36
NG_011835.1:g.27926A>G , LRG_417:g.27926A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.323A>G MANE Select	ENSP00000383365.1:p.Gln108Arg
ENST00000334363.14:c.323A>G	ENSP00000334451.9:p.Gln108Arg
ENST00000400518.5:c.233A>G	ENSP00000383362.1:p.Gln78Arg
ENST00000400519.6:c.320A>G	ENSP00000383363.1:p.Gln107Arg
ENST00000400521.6:c.323A>G	ENSP00000383365.1:p.Gln108Arg
ENST00000400525.6:c.254A>G	ENSP00000383369.3:p.Gln85Arg
ENST00000474308.5:c.266A>G	ENSP00000485665.1:p.Gln89Arg
ENST00000491939.6:c.227A>G	ENSP00000485543.1:p.Gln76Arg
ENST00000496729.2:n.328A>G
ENST00000542719.6:c.35A>G	ENSP00000485128.2:p.Gln12Arg
NM_001282512.1:c.323A>G	NP_001269441.1:p.Gln108Arg
NM_006440.4:c.323A>G	NP_006431.2:p.Gln108Arg
NM_001282512.2:c.323A>G	NP_001269441.1:p.Gln108Arg
NM_001352300.1:c.320A>G	NP_001339229.1:p.Gln107Arg
NM_001352301.1:c.233A>G	NP_001339230.1:p.Gln78Arg
NM_001352302.1:c.35A>G	NP_001339231.1:p.Gln12Arg
NM_001352303.1:c.227A>G	NP_001339232.1:p.Gln76Arg
NR_147957.1:n.455A>G
NM_006440.5:c.323A>G MANE Select	NP_006431.2:p.Gln108Arg
NM_001282512.3:c.323A>G	NP_001269441.1:p.Gln108Arg
NM_001352300.2:c.320A>G	NP_001339229.1:p.Gln107Arg
NR_147957.2:n.281A>G
NM_001352301.2:c.233A>G	NP_001339230.1:p.Gln78Arg
NM_001352302.2:c.35A>G	NP_001339231.1:p.Gln12Arg
NM_001352303.2:c.227A>G	NP_001339232.1:p.Gln76Arg