Canonical Allele Identifier: CA410686592

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1939462492
• gnomAD v3: 22-19895481-A-G
• gnomAD v4: 22-19895481-A-G
• MyVariant Identifiers: chr22:g.19883004A>G (hg19) ; chr22:g.19895481A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895481A>G , CM000684.2:g.19895481A>G	GRCh38
NC_000022.10:g.19883004A>G , CM000684.1:g.19883004A>G	GRCh37
NC_000022.9:g.18263004A>G	NCBI36
NG_011835.1:g.51356T>C , LRG_417:g.51356T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.875T>C MANE Select	ENSP00000383365.1:p.Leu292Pro
ENST00000334363.14:c.875T>C	ENSP00000334451.9:p.Leu292Pro
ENST00000400518.5:c.785T>C	ENSP00000383362.1:p.Leu262Pro
ENST00000400519.6:c.872T>C	ENSP00000383363.1:p.Leu291Pro
ENST00000400521.6:c.875T>C	ENSP00000383365.1:p.Leu292Pro
ENST00000400525.6:c.806T>C	ENSP00000383369.3:p.Leu269Pro
ENST00000474308.5:c.818T>C	ENSP00000485665.1:p.Leu273Pro
ENST00000475995.3:c.372T>C
ENST00000491939.6:c.779T>C	ENSP00000485543.1:p.Leu260Pro
ENST00000494454.5:n.949T>C
ENST00000542719.6:c.587T>C	ENSP00000485128.2:p.Leu196Pro
ENST00000634537.1:c.104T>C	ENSP00000489208.1:p.Leu35Pro
ENST00000635155.1:n.461T>C
NM_001282512.1:c.875T>C	NP_001269441.1:p.Leu292Pro
NM_006440.4:c.875T>C	NP_006431.2:p.Leu292Pro
NM_001282512.2:c.875T>C	NP_001269441.1:p.Leu292Pro
NM_001352300.1:c.872T>C	NP_001339229.1:p.Leu291Pro
NM_001352301.1:c.785T>C	NP_001339230.1:p.Leu262Pro
NM_001352302.1:c.587T>C	NP_001339231.1:p.Leu196Pro
NM_001352303.1:c.779T>C	NP_001339232.1:p.Leu260Pro
NR_147957.1:n.1007T>C
NM_006440.5:c.875T>C MANE Select	NP_006431.2:p.Leu292Pro
NM_001282512.3:c.875T>C	NP_001269441.1:p.Leu292Pro
NM_001352300.2:c.872T>C	NP_001339229.1:p.Leu291Pro
NR_147957.2:n.833T>C
NM_001352301.2:c.785T>C	NP_001339230.1:p.Leu262Pro
NM_001352302.2:c.587T>C	NP_001339231.1:p.Leu196Pro
NM_001352303.2:c.779T>C	NP_001339232.1:p.Leu260Pro