Canonical Allele Identifier: CA410686727

Gene: TXNRD2

Linked Data

• gnomAD v4: 22-19895551-C-T
• MyVariant Identifiers: chr22:g.19883074C>T (hg19) ; chr22:g.19895551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895551C>T , CM000684.2:g.19895551C>T	GRCh38
NC_000022.10:g.19883074C>T , CM000684.1:g.19883074C>T	GRCh37
NC_000022.9:g.18263074C>T	NCBI36
NG_011835.1:g.51286G>A , LRG_417:g.51286G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.805G>A MANE Select	ENSP00000383365.1:p.Ala269Thr
ENST00000334363.14:c.805G>A	ENSP00000334451.9:p.Ala269Thr
ENST00000400518.5:c.715G>A	ENSP00000383362.1:p.Ala239Thr
ENST00000400519.6:c.802G>A	ENSP00000383363.1:p.Ala268Thr
ENST00000400521.6:c.805G>A	ENSP00000383365.1:p.Ala269Thr
ENST00000400525.6:c.736G>A	ENSP00000383369.3:p.Ala246Thr
ENST00000474308.5:c.748G>A	ENSP00000485665.1:p.Ala250Thr
ENST00000475995.3:c.302G>A
ENST00000491939.6:c.709G>A	ENSP00000485543.1:p.Ala237Thr
ENST00000494454.5:n.879G>A
ENST00000542719.6:c.517G>A	ENSP00000485128.2:p.Ala173Thr
ENST00000634537.1:c.34G>A	ENSP00000489208.1:p.Ala12Thr
ENST00000635155.1:n.391G>A
NM_001282512.1:c.805G>A	NP_001269441.1:p.Ala269Thr
NM_006440.4:c.805G>A	NP_006431.2:p.Ala269Thr
NM_001282512.2:c.805G>A	NP_001269441.1:p.Ala269Thr
NM_001352300.1:c.802G>A	NP_001339229.1:p.Ala268Thr
NM_001352301.1:c.715G>A	NP_001339230.1:p.Ala239Thr
NM_001352302.1:c.517G>A	NP_001339231.1:p.Ala173Thr
NM_001352303.1:c.709G>A	NP_001339232.1:p.Ala237Thr
NR_147957.1:n.937G>A
NM_006440.5:c.805G>A MANE Select	NP_006431.2:p.Ala269Thr
NM_001282512.3:c.805G>A	NP_001269441.1:p.Ala269Thr
NM_001352300.2:c.802G>A	NP_001339229.1:p.Ala268Thr
NR_147957.2:n.763G>A
NM_001352301.2:c.715G>A	NP_001339230.1:p.Ala239Thr
NM_001352302.2:c.517G>A	NP_001339231.1:p.Ala173Thr
NM_001352303.2:c.709G>A	NP_001339232.1:p.Ala237Thr