Canonical Allele Identifier: CA410682021

Gene: TXNRD2

Linked Data

• gnomAD v4: 22-19880695-A-C
• MyVariant Identifiers: chr22:g.19868218A>C (hg19) ; chr22:g.19880695A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880695A>C , CM000684.2:g.19880695A>C	GRCh38
NC_000022.10:g.19868218A>C , CM000684.1:g.19868218A>C	GRCh37
NC_000022.9:g.18248218A>C	NCBI36
NG_011835.1:g.66142T>G , LRG_417:g.66142T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1109T>G MANE Select	ENSP00000383365.1:p.Ile370Arg
ENST00000400518.5:c.1019T>G	ENSP00000383362.1:p.Ile340Arg
ENST00000400519.6:c.1106T>G	ENSP00000383363.1:p.Ile369Arg
ENST00000400521.6:c.1109T>G	ENSP00000383365.1:p.Ile370Arg
ENST00000400525.6:c.1040T>G	ENSP00000383369.3:p.Ile347Arg
ENST00000462330.5:c.32T>G	ENSP00000485603.2:p.Ile11Arg
ENST00000462843.2:c.59T>G	ENSP00000485466.2:p.Ile20Arg
ENST00000474308.5:c.1052T>G	ENSP00000485665.1:p.Ile351Arg
ENST00000485358.5:c.77T>G	ENSP00000485499.2:p.Ile26Arg
ENST00000487165.5:n.1203T>G
ENST00000494454.5:n.1183T>G
ENST00000495655.2:n.653T>G
ENST00000542719.6:c.821T>G	ENSP00000485128.2:p.Ile274Arg
ENST00000634471.1:n.244-424T>G
ENST00000634537.1:c.338T>G	ENSP00000489208.1:p.Ile113Arg
NM_006440.4:c.1109T>G	NP_006431.2:p.Ile370Arg
NM_001352300.1:c.1106T>G	NP_001339229.1:p.Ile369Arg
NM_001352301.1:c.1019T>G	NP_001339230.1:p.Ile340Arg
NM_001352302.1:c.821T>G	NP_001339231.1:p.Ile274Arg
NR_147957.1:n.1241T>G
NM_006440.5:c.1109T>G MANE Select	NP_006431.2:p.Ile370Arg
NM_001352300.2:c.1106T>G	NP_001339229.1:p.Ile369Arg
NR_147957.2:n.1067T>G
NM_001352301.2:c.1019T>G	NP_001339230.1:p.Ile340Arg
NM_001352302.2:c.821T>G	NP_001339231.1:p.Ile274Arg