Canonical Allele Identifier: CA410681995

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 2578242
• ClinVar RCV Id: RCV003325841
• dbSNP Id: rs867534955
• gnomAD v2: 22-19868206-G-C
• gnomAD v4: 22-19880683-G-C
• MyVariant Identifiers: chr22:g.19868206G>C (hg19) ; chr22:g.19880683G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880683G>C , CM000684.2:g.19880683G>C	GRCh38
NC_000022.10:g.19868206G>C , CM000684.1:g.19868206G>C	GRCh37
NC_000022.9:g.18248206G>C	NCBI36
NG_011835.1:g.66154C>G , LRG_417:g.66154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1121C>G MANE Select	ENSP00000383365.1:p.Ala374Gly
ENST00000400518.5:c.1031C>G	ENSP00000383362.1:p.Ala344Gly
ENST00000400519.6:c.1118C>G	ENSP00000383363.1:p.Ala373Gly
ENST00000400521.6:c.1121C>G	ENSP00000383365.1:p.Ala374Gly
ENST00000400525.6:c.1052C>G	ENSP00000383369.3:p.Ala351Gly
ENST00000462330.5:c.44C>G	ENSP00000485603.2:p.Ala15Gly
ENST00000462843.2:c.71C>G	ENSP00000485466.2:p.Ala24Gly
ENST00000474308.5:c.1064C>G	ENSP00000485665.1:p.Ala355Gly
ENST00000485358.5:c.89C>G	ENSP00000485499.2:p.Ala30Gly
ENST00000487165.5:n.1215C>G
ENST00000494454.5:n.1195C>G
ENST00000495655.2:n.665C>G
ENST00000542719.6:c.833C>G	ENSP00000485128.2:p.Ala278Gly
ENST00000634471.1:n.244-412C>G
ENST00000634537.1:c.350C>G	ENSP00000489208.1:p.Ala117Gly
NM_006440.4:c.1121C>G	NP_006431.2:p.Ala374Gly
NM_001352300.1:c.1118C>G	NP_001339229.1:p.Ala373Gly
NM_001352301.1:c.1031C>G	NP_001339230.1:p.Ala344Gly
NM_001352302.1:c.833C>G	NP_001339231.1:p.Ala278Gly
NR_147957.1:n.1253C>G
NM_006440.5:c.1121C>G MANE Select	NP_006431.2:p.Ala374Gly
NM_001352300.2:c.1118C>G	NP_001339229.1:p.Ala373Gly
NR_147957.2:n.1079C>G
NM_001352301.2:c.1031C>G	NP_001339230.1:p.Ala344Gly
NM_001352302.2:c.833C>G	NP_001339231.1:p.Ala278Gly