Canonical Allele Identifier: CA10103698

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 264269
• ClinVar RCV Id: RCV000252205 ; RCV000539064 ; RCV000863069 ; RCV001575668
• dbSNP Id: rs202059967
• ExAC: 22:19865895 A / C
• gnomAD v2: 22-19865895-A-C
• gnomAD v3: 22-19878372-A-C
• gnomAD v4: 22-19878372-A-C
• MyVariant Identifiers: chr22:g.19865895A>C (hg19) ; chr22:g.19878372A>C (hg38)
• PubMed: PMID:21247928 ; PMID:24601690 ; PMID:26300845

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19878372A>C , CM000684.2:g.19878372A>C	GRCh38
NC_000022.10:g.19865895A>C , CM000684.1:g.19865895A>C	GRCh37
NC_000022.9:g.18245895A>C	NCBI36
NG_011835.1:g.68465T>G , LRG_417:g.68465T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1341T>G MANE Select	ENSP00000383365.1:p.Tyr447Ter
ENST00000400518.5:c.1251T>G	ENSP00000383362.1:p.Tyr417Ter
ENST00000400519.6:c.1338T>G	ENSP00000383363.1:p.Tyr446Ter
ENST00000400521.6:c.1341T>G	ENSP00000383365.1:p.Tyr447Ter
ENST00000400525.6:c.1272T>G	ENSP00000383369.3:p.Tyr424Ter
ENST00000462330.5:c.264T>G	ENSP00000485603.2:p.Tyr88Ter
ENST00000462843.2:c.291T>G	ENSP00000485466.2:p.Tyr97Ter
ENST00000474308.5:c.1284T>G	ENSP00000485665.1:p.Tyr428Ter
ENST00000485358.5:c.309T>G	ENSP00000485499.2:p.Tyr103Ter
ENST00000487165.5:n.1435T>G
ENST00000494454.5:n.1415T>G
ENST00000495655.2:n.885T>G
ENST00000542719.6:c.1053T>G	ENSP00000485128.2:p.Tyr351Ter
ENST00000634471.1:n.402T>G
ENST00000634537.1:c.570T>G	ENSP00000489208.1:p.Tyr190Ter
NM_006440.4:c.1341T>G	NP_006431.2:p.Tyr447Ter
NM_001352300.1:c.1338T>G	NP_001339229.1:p.Tyr446Ter
NM_001352301.1:c.1251T>G	NP_001339230.1:p.Tyr417Ter
NM_001352302.1:c.1053T>G	NP_001339231.1:p.Tyr351Ter
NR_147957.1:n.1473T>G
NM_006440.5:c.1341T>G MANE Select	NP_006431.2:p.Tyr447Ter
NM_001352300.2:c.1338T>G	NP_001339229.1:p.Tyr446Ter
NR_147957.2:n.1299T>G
NM_001352301.2:c.1251T>G	NP_001339230.1:p.Tyr417Ter
NM_001352302.2:c.1053T>G	NP_001339231.1:p.Tyr351Ter