Canonical Allele Identifier: CA410693651

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 2915829
• ClinVar RCV Id: RCV003620431
• gnomAD v4: 22-19918870-G-T
• MyVariant Identifiers: chr22:g.19906393G>T (hg19) ; chr22:g.19918870G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918870G>T , CM000684.2:g.19918870G>T	GRCh38
NC_000022.10:g.19906393G>T , CM000684.1:g.19906393G>T	GRCh37
NC_000022.9:g.18286393G>T	NCBI36
NG_011835.1:g.27967C>A , LRG_417:g.27967C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.364C>A MANE Select	ENSP00000383365.1:p.Pro122Thr
ENST00000334363.14:c.364C>A	ENSP00000334451.9:p.Pro122Thr
ENST00000400518.5:c.274C>A	ENSP00000383362.1:p.Pro92Thr
ENST00000400519.6:c.361C>A	ENSP00000383363.1:p.Pro121Thr
ENST00000400521.6:c.364C>A	ENSP00000383365.1:p.Pro122Thr
ENST00000400525.6:c.295C>A	ENSP00000383369.3:p.Pro99Thr
ENST00000474308.5:c.307C>A	ENSP00000485665.1:p.Pro103Thr
ENST00000491939.6:c.268C>A	ENSP00000485543.1:p.Pro90Thr
ENST00000496729.2:n.369C>A
ENST00000542719.6:c.76C>A	ENSP00000485128.2:p.Pro26Thr
NM_001282512.1:c.364C>A	NP_001269441.1:p.Pro122Thr
NM_006440.4:c.364C>A	NP_006431.2:p.Pro122Thr
NM_001282512.2:c.364C>A	NP_001269441.1:p.Pro122Thr
NM_001352300.1:c.361C>A	NP_001339229.1:p.Pro121Thr
NM_001352301.1:c.274C>A	NP_001339230.1:p.Pro92Thr
NM_001352302.1:c.76C>A	NP_001339231.1:p.Pro26Thr
NM_001352303.1:c.268C>A	NP_001339232.1:p.Pro90Thr
NR_147957.1:n.496C>A
NM_006440.5:c.364C>A MANE Select	NP_006431.2:p.Pro122Thr
NM_001282512.3:c.364C>A	NP_001269441.1:p.Pro122Thr
NM_001352300.2:c.361C>A	NP_001339229.1:p.Pro121Thr
NR_147957.2:n.322C>A
NM_001352301.2:c.274C>A	NP_001339230.1:p.Pro92Thr
NM_001352302.2:c.76C>A	NP_001339231.1:p.Pro26Thr
NM_001352303.2:c.268C>A	NP_001339232.1:p.Pro90Thr