Canonical Allele Identifier: CA410693741

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 654863
• ClinVar RCV Id: RCV000810915 ; RCV002453831
• dbSNP Id: rs905391308
• gnomAD v2: 22-19906419-T-C
• gnomAD v3: 22-19918896-T-C
• gnomAD v4: 22-19918896-T-C
• MyVariant Identifiers: chr22:g.19906419T>C (hg19) ; chr22:g.19918896T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918896T>C , CM000684.2:g.19918896T>C	GRCh38
NC_000022.10:g.19906419T>C , CM000684.1:g.19906419T>C	GRCh37
NC_000022.9:g.18286419T>C	NCBI36
NG_011835.1:g.27941A>G , LRG_417:g.27941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.338A>G MANE Select	ENSP00000383365.1:p.Tyr113Cys
ENST00000334363.14:c.338A>G	ENSP00000334451.9:p.Tyr113Cys
ENST00000400518.5:c.248A>G	ENSP00000383362.1:p.Tyr83Cys
ENST00000400519.6:c.335A>G	ENSP00000383363.1:p.Tyr112Cys
ENST00000400521.6:c.338A>G	ENSP00000383365.1:p.Tyr113Cys
ENST00000400525.6:c.269A>G	ENSP00000383369.3:p.Tyr90Cys
ENST00000474308.5:c.281A>G	ENSP00000485665.1:p.Tyr94Cys
ENST00000491939.6:c.242A>G	ENSP00000485543.1:p.Tyr81Cys
ENST00000496729.2:n.343A>G
ENST00000542719.6:c.50A>G	ENSP00000485128.2:p.Tyr17Cys
NM_001282512.1:c.338A>G	NP_001269441.1:p.Tyr113Cys
NM_006440.4:c.338A>G	NP_006431.2:p.Tyr113Cys
NM_001282512.2:c.338A>G	NP_001269441.1:p.Tyr113Cys
NM_001352300.1:c.335A>G	NP_001339229.1:p.Tyr112Cys
NM_001352301.1:c.248A>G	NP_001339230.1:p.Tyr83Cys
NM_001352302.1:c.50A>G	NP_001339231.1:p.Tyr17Cys
NM_001352303.1:c.242A>G	NP_001339232.1:p.Tyr81Cys
NR_147957.1:n.470A>G
NM_006440.5:c.338A>G MANE Select	NP_006431.2:p.Tyr113Cys
NM_001282512.3:c.338A>G	NP_001269441.1:p.Tyr113Cys
NM_001352300.2:c.335A>G	NP_001339229.1:p.Tyr112Cys
NR_147957.2:n.296A>G
NM_001352301.2:c.248A>G	NP_001339230.1:p.Tyr83Cys
NM_001352302.2:c.50A>G	NP_001339231.1:p.Tyr17Cys
NM_001352303.2:c.242A>G	NP_001339232.1:p.Tyr81Cys