Canonical Allele Identifier: CA10103776
Gene: TXNRD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 263636
ClinVar RCV Id: RCV000244103 RCV000435580 RCV000467999
dbSNP Id: rs201971987
ExAC: 22:19868153 A / G
gnomAD v2: 22-19868153-A-G
gnomAD v3: 22-19880630-A-G
gnomAD v4: 22-19880630-A-G
MyVariant Identifiers: chr22:g.19868153A>G (hg19) chr22:g.19880630A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19880630A>G , CM000684.2:g.19880630A>G GRCh38
NC_000022.10:g.19868153A>G , CM000684.1:g.19868153A>G GRCh37
NC_000022.9:g.18248153A>G NCBI36
NG_011835.1:g.66207T>C , LRG_417:g.66207T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400521.7:c.1174T>C MANE Select ENSP00000383365.1:p.Tyr392His
ENST00000400518.5:c.1084T>C ENSP00000383362.1:p.Tyr362His
ENST00000400519.6:c.1171T>C ENSP00000383363.1:p.Tyr391His
ENST00000400521.6:c.1174T>C ENSP00000383365.1:p.Tyr392His
ENST00000400525.6:c.1105T>C ENSP00000383369.3:p.Tyr369His
ENST00000462330.5:c.97T>C ENSP00000485603.2:p.Tyr33His
ENST00000462843.2:c.124T>C ENSP00000485466.2:p.Tyr42His
ENST00000474308.5:c.1117T>C ENSP00000485665.1:p.Tyr373His
ENST00000485358.5:c.142T>C ENSP00000485499.2:p.Tyr48His
ENST00000487165.5:n.1268T>C
ENST00000494454.5:n.1248T>C
ENST00000495655.2:n.718T>C
ENST00000542719.6:c.886T>C ENSP00000485128.2:p.Tyr296His
ENST00000634471.1:n.244-359T>C
ENST00000634537.1:c.403T>C ENSP00000489208.1:p.Tyr135His
NM_006440.4:c.1174T>C NP_006431.2:p.Tyr392His
NM_001352300.1:c.1171T>C NP_001339229.1:p.Tyr391His
NM_001352301.1:c.1084T>C NP_001339230.1:p.Tyr362His
NM_001352302.1:c.886T>C NP_001339231.1:p.Tyr296His
NR_147957.1:n.1306T>C
NM_006440.5:c.1174T>C MANE Select NP_006431.2:p.Tyr392His
NM_001352300.2:c.1171T>C NP_001339229.1:p.Tyr391His
NR_147957.2:n.1132T>C
NM_001352301.2:c.1084T>C NP_001339230.1:p.Tyr362His
NM_001352302.2:c.886T>C NP_001339231.1:p.Tyr296His
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