Canonical Allele Identifier: CA410693654

Gene: TXNRD2

Linked Data

• gnomAD v4: 22-19918872-A-G
• MyVariant Identifiers: chr22:g.19906395A>G (hg19) ; chr22:g.19918872A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918872A>G , CM000684.2:g.19918872A>G	GRCh38
NC_000022.10:g.19906395A>G , CM000684.1:g.19906395A>G	GRCh37
NC_000022.9:g.18286395A>G	NCBI36
NG_011835.1:g.27965T>C , LRG_417:g.27965T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.362T>C MANE Select	ENSP00000383365.1:p.Val121Ala
ENST00000334363.14:c.362T>C	ENSP00000334451.9:p.Val121Ala
ENST00000400518.5:c.272T>C	ENSP00000383362.1:p.Val91Ala
ENST00000400519.6:c.359T>C	ENSP00000383363.1:p.Val120Ala
ENST00000400521.6:c.362T>C	ENSP00000383365.1:p.Val121Ala
ENST00000400525.6:c.293T>C	ENSP00000383369.3:p.Val98Ala
ENST00000474308.5:c.305T>C	ENSP00000485665.1:p.Val102Ala
ENST00000491939.6:c.266T>C	ENSP00000485543.1:p.Val89Ala
ENST00000496729.2:n.367T>C
ENST00000542719.6:c.74T>C	ENSP00000485128.2:p.Val25Ala
NM_001282512.1:c.362T>C	NP_001269441.1:p.Val121Ala
NM_006440.4:c.362T>C	NP_006431.2:p.Val121Ala
NM_001282512.2:c.362T>C	NP_001269441.1:p.Val121Ala
NM_001352300.1:c.359T>C	NP_001339229.1:p.Val120Ala
NM_001352301.1:c.272T>C	NP_001339230.1:p.Val91Ala
NM_001352302.1:c.74T>C	NP_001339231.1:p.Val25Ala
NM_001352303.1:c.266T>C	NP_001339232.1:p.Val89Ala
NR_147957.1:n.494T>C
NM_006440.5:c.362T>C MANE Select	NP_006431.2:p.Val121Ala
NM_001282512.3:c.362T>C	NP_001269441.1:p.Val121Ala
NM_001352300.2:c.359T>C	NP_001339229.1:p.Val120Ala
NR_147957.2:n.320T>C
NM_001352301.2:c.272T>C	NP_001339230.1:p.Val91Ala
NM_001352302.2:c.74T>C	NP_001339231.1:p.Val25Ala
NM_001352303.2:c.266T>C	NP_001339232.1:p.Val89Ala