Canonical Allele Identifier: CA16616313

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 407096
• ClinVar RCV Id: RCV000459764
• dbSNP Id: rs989125451
• gnomAD v2: 22-19883019-A-C
• gnomAD v4: 22-19895496-A-C
• MyVariant Identifiers: chr22:g.19883019A>C (hg19) ; chr22:g.19895496A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895496A>C , CM000684.2:g.19895496A>C	GRCh38
NC_000022.10:g.19883019A>C , CM000684.1:g.19883019A>C	GRCh37
NC_000022.9:g.18263019A>C	NCBI36
NG_011835.1:g.51341T>G , LRG_417:g.51341T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.860T>G MANE Select	ENSP00000383365.1:p.Leu287Arg
ENST00000334363.14:c.860T>G	ENSP00000334451.9:p.Leu287Arg
ENST00000400518.5:c.770T>G	ENSP00000383362.1:p.Leu257Arg
ENST00000400519.6:c.857T>G	ENSP00000383363.1:p.Leu286Arg
ENST00000400521.6:c.860T>G	ENSP00000383365.1:p.Leu287Arg
ENST00000400525.6:c.791T>G	ENSP00000383369.3:p.Leu264Arg
ENST00000474308.5:c.803T>G	ENSP00000485665.1:p.Leu268Arg
ENST00000475995.3:c.357T>G
ENST00000491939.6:c.764T>G	ENSP00000485543.1:p.Leu255Arg
ENST00000494454.5:n.934T>G
ENST00000542719.6:c.572T>G	ENSP00000485128.2:p.Leu191Arg
ENST00000634537.1:c.89T>G	ENSP00000489208.1:p.Leu30Arg
ENST00000635155.1:n.446T>G
NM_001282512.1:c.860T>G	NP_001269441.1:p.Leu287Arg
NM_006440.4:c.860T>G	NP_006431.2:p.Leu287Arg
NM_001282512.2:c.860T>G	NP_001269441.1:p.Leu287Arg
NM_001352300.1:c.857T>G	NP_001339229.1:p.Leu286Arg
NM_001352301.1:c.770T>G	NP_001339230.1:p.Leu257Arg
NM_001352302.1:c.572T>G	NP_001339231.1:p.Leu191Arg
NM_001352303.1:c.764T>G	NP_001339232.1:p.Leu255Arg
NR_147957.1:n.992T>G
NM_006440.5:c.860T>G MANE Select	NP_006431.2:p.Leu287Arg
NM_001282512.3:c.860T>G	NP_001269441.1:p.Leu287Arg
NM_001352300.2:c.857T>G	NP_001339229.1:p.Leu286Arg
NR_147957.2:n.818T>G
NM_001352301.2:c.770T>G	NP_001339230.1:p.Leu257Arg
NM_001352302.2:c.572T>G	NP_001339231.1:p.Leu191Arg
NM_001352303.2:c.764T>G	NP_001339232.1:p.Leu255Arg