Canonical Allele Identifier: CA410682028

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 1423094
• ClinVar RCV Id: RCV001954706
• dbSNP Id: rs1489194482
• MyVariant Identifiers: chr22:g.19868221G>T (hg19) ; chr22:g.19880698G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880698G>T , CM000684.2:g.19880698G>T	GRCh38
NC_000022.10:g.19868221G>T , CM000684.1:g.19868221G>T	GRCh37
NC_000022.9:g.18248221G>T	NCBI36
NG_011835.1:g.66139C>A , LRG_417:g.66139C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1106C>A MANE Select	ENSP00000383365.1:p.Pro369His
ENST00000400518.5:c.1016C>A	ENSP00000383362.1:p.Pro339His
ENST00000400519.6:c.1103C>A	ENSP00000383363.1:p.Pro368His
ENST00000400521.6:c.1106C>A	ENSP00000383365.1:p.Pro369His
ENST00000400525.6:c.1037C>A	ENSP00000383369.3:p.Pro346His
ENST00000462330.5:c.29C>A	ENSP00000485603.2:p.Pro10His
ENST00000462843.2:c.56C>A	ENSP00000485466.2:p.Pro19His
ENST00000474308.5:c.1049C>A	ENSP00000485665.1:p.Pro350His
ENST00000485358.5:c.74C>A	ENSP00000485499.2:p.Pro25His
ENST00000487165.5:n.1200C>A
ENST00000494454.5:n.1180C>A
ENST00000495655.2:n.650C>A
ENST00000542719.6:c.818C>A	ENSP00000485128.2:p.Pro273His
ENST00000634471.1:n.244-427C>A
ENST00000634537.1:c.335C>A	ENSP00000489208.1:p.Pro112His
NM_006440.4:c.1106C>A	NP_006431.2:p.Pro369His
NM_001352300.1:c.1103C>A	NP_001339229.1:p.Pro368His
NM_001352301.1:c.1016C>A	NP_001339230.1:p.Pro339His
NM_001352302.1:c.818C>A	NP_001339231.1:p.Pro273His
NR_147957.1:n.1238C>A
NM_006440.5:c.1106C>A MANE Select	NP_006431.2:p.Pro369His
NM_001352300.2:c.1103C>A	NP_001339229.1:p.Pro368His
NR_147957.2:n.1064C>A
NM_001352301.2:c.1016C>A	NP_001339230.1:p.Pro339His
NM_001352302.2:c.818C>A	NP_001339231.1:p.Pro273His