Canonical Allele Identifier: CA410686367

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 1766441
• ClinVar RCV Id: RCV002371482
• MyVariant Identifiers: chr22:g.19882951C>T (hg19) ; chr22:g.19895428C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895428C>T , CM000684.2:g.19895428C>T	GRCh38
NC_000022.10:g.19882951C>T , CM000684.1:g.19882951C>T	GRCh37
NC_000022.9:g.18262951C>T	NCBI36
NG_011835.1:g.51409G>A , LRG_417:g.51409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.928G>A MANE Select	ENSP00000383365.1:p.Asp310Asn
ENST00000334363.14:c.928G>A	ENSP00000334451.9:p.Asp310Asn
ENST00000400518.5:c.838G>A	ENSP00000383362.1:p.Asp280Asn
ENST00000400519.6:c.925G>A	ENSP00000383363.1:p.Asp309Asn
ENST00000400521.6:c.928G>A	ENSP00000383365.1:p.Asp310Asn
ENST00000400525.6:c.859G>A	ENSP00000383369.3:p.Asp287Asn
ENST00000474308.5:c.871G>A	ENSP00000485665.1:p.Asp291Asn
ENST00000475995.3:c.425G>A
ENST00000491939.6:c.832G>A	ENSP00000485543.1:p.Asp278Asn
ENST00000494454.5:n.1002G>A
ENST00000542719.6:c.640G>A	ENSP00000485128.2:p.Asp214Asn
ENST00000634537.1:c.157G>A	ENSP00000489208.1:p.Asp53Asn
ENST00000635155.1:n.514G>A
NM_001282512.1:c.928G>A	NP_001269441.1:p.Asp310Asn
NM_006440.4:c.928G>A	NP_006431.2:p.Asp310Asn
NM_001282512.2:c.928G>A	NP_001269441.1:p.Asp310Asn
NM_001352300.1:c.925G>A	NP_001339229.1:p.Asp309Asn
NM_001352301.1:c.838G>A	NP_001339230.1:p.Asp280Asn
NM_001352302.1:c.640G>A	NP_001339231.1:p.Asp214Asn
NM_001352303.1:c.832G>A	NP_001339232.1:p.Asp278Asn
NR_147957.1:n.1060G>A
NM_006440.5:c.928G>A MANE Select	NP_006431.2:p.Asp310Asn
NM_001282512.3:c.928G>A	NP_001269441.1:p.Asp310Asn
NM_001352300.2:c.925G>A	NP_001339229.1:p.Asp309Asn
NR_147957.2:n.886G>A
NM_001352301.2:c.838G>A	NP_001339230.1:p.Asp280Asn
NM_001352302.2:c.640G>A	NP_001339231.1:p.Asp214Asn
NM_001352303.2:c.832G>A	NP_001339232.1:p.Asp278Asn