Canonical Allele Identifier: CA10103958

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 240656
• ClinVar RCV Id: RCV000229913 ; RCV001582788 ; RCV002444908
• dbSNP Id: rs201177571
• ExAC: 22:19883029 C / G
• gnomAD v2: 22-19883029-C-G
• gnomAD v3: 22-19895506-C-G
• gnomAD v4: 22-19895506-C-G
• MyVariant Identifiers: chr22:g.19883029C>G (hg19) ; chr22:g.19895506C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895506C>G , CM000684.2:g.19895506C>G	GRCh38
NC_000022.10:g.19883029C>G , CM000684.1:g.19883029C>G	GRCh37
NC_000022.9:g.18263029C>G	NCBI36
NG_011835.1:g.51331G>C , LRG_417:g.51331G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.850G>C MANE Select	ENSP00000383365.1:p.Val284Leu
ENST00000334363.14:c.850G>C	ENSP00000334451.9:p.Val284Leu
ENST00000400518.5:c.760G>C	ENSP00000383362.1:p.Val254Leu
ENST00000400519.6:c.847G>C	ENSP00000383363.1:p.Val283Leu
ENST00000400521.6:c.850G>C	ENSP00000383365.1:p.Val284Leu
ENST00000400525.6:c.781G>C	ENSP00000383369.3:p.Val261Leu
ENST00000474308.5:c.793G>C	ENSP00000485665.1:p.Val265Leu
ENST00000475995.3:c.347G>C
ENST00000491939.6:c.754G>C	ENSP00000485543.1:p.Val252Leu
ENST00000494454.5:n.924G>C
ENST00000542719.6:c.562G>C	ENSP00000485128.2:p.Val188Leu
ENST00000634537.1:c.79G>C	ENSP00000489208.1:p.Val27Leu
ENST00000635155.1:n.436G>C
NM_001282512.1:c.850G>C	NP_001269441.1:p.Val284Leu
NM_006440.4:c.850G>C	NP_006431.2:p.Val284Leu
NM_001282512.2:c.850G>C	NP_001269441.1:p.Val284Leu
NM_001352300.1:c.847G>C	NP_001339229.1:p.Val283Leu
NM_001352301.1:c.760G>C	NP_001339230.1:p.Val254Leu
NM_001352302.1:c.562G>C	NP_001339231.1:p.Val188Leu
NM_001352303.1:c.754G>C	NP_001339232.1:p.Val252Leu
NR_147957.1:n.982G>C
NM_006440.5:c.850G>C MANE Select	NP_006431.2:p.Val284Leu
NM_001282512.3:c.850G>C	NP_001269441.1:p.Val284Leu
NM_001352300.2:c.847G>C	NP_001339229.1:p.Val283Leu
NR_147957.2:n.808G>C
NM_001352301.2:c.760G>C	NP_001339230.1:p.Val254Leu
NM_001352302.2:c.562G>C	NP_001339231.1:p.Val188Leu
NM_001352303.2:c.754G>C	NP_001339232.1:p.Val252Leu