Canonical Allele Identifier: CA410686765

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 840418
• ClinVar RCV Id: RCV001042402
• dbSNP Id: rs1939469611
• gnomAD v4: 22-19895567-C-T
• MyVariant Identifiers: chr22:g.19883090C>T (hg19) ; chr22:g.19895567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895567C>T , CM000684.2:g.19895567C>T	GRCh38
NC_000022.10:g.19883090C>T , CM000684.1:g.19883090C>T	GRCh37
NC_000022.9:g.18263090C>T	NCBI36
NG_011835.1:g.51270G>A , LRG_417:g.51270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.789G>A MANE Select	ENSP00000383365.1:p.Met263Ile
ENST00000334363.14:c.789G>A	ENSP00000334451.9:p.Met263Ile
ENST00000400518.5:c.699G>A	ENSP00000383362.1:p.Met233Ile
ENST00000400519.6:c.786G>A	ENSP00000383363.1:p.Met262Ile
ENST00000400521.6:c.789G>A	ENSP00000383365.1:p.Met263Ile
ENST00000400525.6:c.720G>A	ENSP00000383369.3:p.Met240Ile
ENST00000474308.5:c.732G>A	ENSP00000485665.1:p.Met244Ile
ENST00000475995.3:c.286G>A
ENST00000491939.6:c.693G>A	ENSP00000485543.1:p.Met231Ile
ENST00000494454.5:n.863G>A
ENST00000542719.6:c.501G>A	ENSP00000485128.2:p.Met167Ile
ENST00000634537.1:c.18G>A	ENSP00000489208.1:p.Met6Ile
ENST00000635155.1:n.375G>A
NM_001282512.1:c.789G>A	NP_001269441.1:p.Met263Ile
NM_006440.4:c.789G>A	NP_006431.2:p.Met263Ile
NM_001282512.2:c.789G>A	NP_001269441.1:p.Met263Ile
NM_001352300.1:c.786G>A	NP_001339229.1:p.Met262Ile
NM_001352301.1:c.699G>A	NP_001339230.1:p.Met233Ile
NM_001352302.1:c.501G>A	NP_001339231.1:p.Met167Ile
NM_001352303.1:c.693G>A	NP_001339232.1:p.Met231Ile
NR_147957.1:n.921G>A
NM_006440.5:c.789G>A MANE Select	NP_006431.2:p.Met263Ile
NM_001282512.3:c.789G>A	NP_001269441.1:p.Met263Ile
NM_001352300.2:c.786G>A	NP_001339229.1:p.Met262Ile
NR_147957.2:n.747G>A
NM_001352301.2:c.699G>A	NP_001339230.1:p.Met233Ile
NM_001352302.2:c.501G>A	NP_001339231.1:p.Met167Ile
NM_001352303.2:c.693G>A	NP_001339232.1:p.Met231Ile