Canonical Allele Identifier: CA10103942

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 2138472
• ClinVar RCV Id: RCV003050588
• dbSNP Id: rs577533142
• ExAC: 22:19882945 C / T
• gnomAD v2: 22-19882945-C-T
• gnomAD v3: 22-19895422-C-T
• gnomAD v4: 22-19895422-C-T
• MyVariant Identifiers: chr22:g.19882945C>T (hg19) ; chr22:g.19895422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895422C>T , CM000684.2:g.19895422C>T	GRCh38
NC_000022.10:g.19882945C>T , CM000684.1:g.19882945C>T	GRCh37
NC_000022.9:g.18262945C>T	NCBI36
NG_011835.1:g.51415G>A , LRG_417:g.51415G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.934G>A MANE Select	ENSP00000383365.1:p.Val312Ile
ENST00000334363.14:c.934G>A	ENSP00000334451.9:p.Val312Ile
ENST00000400518.5:c.844G>A	ENSP00000383362.1:p.Val282Ile
ENST00000400519.6:c.931G>A	ENSP00000383363.1:p.Val311Ile
ENST00000400521.6:c.934G>A	ENSP00000383365.1:p.Val312Ile
ENST00000400525.6:c.865G>A	ENSP00000383369.3:p.Val289Ile
ENST00000474308.5:c.877G>A	ENSP00000485665.1:p.Val293Ile
ENST00000475995.3:c.431G>A
ENST00000491939.6:c.838G>A	ENSP00000485543.1:p.Val280Ile
ENST00000494454.5:n.1008G>A
ENST00000542719.6:c.646G>A	ENSP00000485128.2:p.Val216Ile
ENST00000634537.1:c.163G>A	ENSP00000489208.1:p.Val55Ile
ENST00000635155.1:n.520G>A
NM_001282512.1:c.934G>A	NP_001269441.1:p.Val312Ile
NM_006440.4:c.934G>A	NP_006431.2:p.Val312Ile
NM_001282512.2:c.934G>A	NP_001269441.1:p.Val312Ile
NM_001352300.1:c.931G>A	NP_001339229.1:p.Val311Ile
NM_001352301.1:c.844G>A	NP_001339230.1:p.Val282Ile
NM_001352302.1:c.646G>A	NP_001339231.1:p.Val216Ile
NM_001352303.1:c.838G>A	NP_001339232.1:p.Val280Ile
NR_147957.1:n.1066G>A
NM_006440.5:c.934G>A MANE Select	NP_006431.2:p.Val312Ile
NM_001282512.3:c.934G>A	NP_001269441.1:p.Val312Ile
NM_001352300.2:c.931G>A	NP_001339229.1:p.Val311Ile
NR_147957.2:n.892G>A
NM_001352301.2:c.844G>A	NP_001339230.1:p.Val282Ile
NM_001352302.2:c.646G>A	NP_001339231.1:p.Val216Ile
NM_001352303.2:c.838G>A	NP_001339232.1:p.Val280Ile