Canonical Allele Identifier: CA410681909

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 1509038
• ClinVar RCV Id: RCV002016549 ; RCV002331619
• dbSNP Id: rs758236709
• gnomAD v3: 22-19880635-A-C
• gnomAD v4: 22-19880635-A-C
• MyVariant Identifiers: chr22:g.19868158A>C (hg19) ; chr22:g.19880635A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880635A>C , CM000684.2:g.19880635A>C	GRCh38
NC_000022.10:g.19868158A>C , CM000684.1:g.19868158A>C	GRCh37
NC_000022.9:g.18248158A>C	NCBI36
NG_011835.1:g.66202T>G , LRG_417:g.66202T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.1169T>G MANE Select	ENSP00000383365.1:p.Met390Arg
ENST00000400518.5:c.1079T>G	ENSP00000383362.1:p.Met360Arg
ENST00000400519.6:c.1166T>G	ENSP00000383363.1:p.Met389Arg
ENST00000400521.6:c.1169T>G	ENSP00000383365.1:p.Met390Arg
ENST00000400525.6:c.1100T>G	ENSP00000383369.3:p.Met367Arg
ENST00000462330.5:c.92T>G	ENSP00000485603.2:p.Met31Arg
ENST00000462843.2:c.119T>G	ENSP00000485466.2:p.Met40Arg
ENST00000474308.5:c.1112T>G	ENSP00000485665.1:p.Met371Arg
ENST00000485358.5:c.137T>G	ENSP00000485499.2:p.Met46Arg
ENST00000487165.5:n.1263T>G
ENST00000494454.5:n.1243T>G
ENST00000495655.2:n.713T>G
ENST00000542719.6:c.881T>G	ENSP00000485128.2:p.Met294Arg
ENST00000634471.1:n.244-364T>G
ENST00000634537.1:c.398T>G	ENSP00000489208.1:p.Met133Arg
NM_006440.4:c.1169T>G	NP_006431.2:p.Met390Arg
NM_001352300.1:c.1166T>G	NP_001339229.1:p.Met389Arg
NM_001352301.1:c.1079T>G	NP_001339230.1:p.Met360Arg
NM_001352302.1:c.881T>G	NP_001339231.1:p.Met294Arg
NR_147957.1:n.1301T>G
NM_006440.5:c.1169T>G MANE Select	NP_006431.2:p.Met390Arg
NM_001352300.2:c.1166T>G	NP_001339229.1:p.Met389Arg
NR_147957.2:n.1127T>G
NM_001352301.2:c.1079T>G	NP_001339230.1:p.Met360Arg
NM_001352302.2:c.881T>G	NP_001339231.1:p.Met294Arg