Canonical Allele Identifier: CA410681954

Gene: TXNRD2

Linked Data

• MyVariant Identifiers: chr22:g.19868182A>T (hg19) ; chr22:g.19880659A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880659A>T , CM000684.2:g.19880659A>T	GRCh38
NC_000022.10:g.19868182A>T , CM000684.1:g.19868182A>T	GRCh37
NC_000022.9:g.18248182A>T	NCBI36
NG_011835.1:g.66178T>A , LRG_417:g.66178T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1145T>A MANE Select	ENSP00000383365.1:p.Leu382His
ENST00000400518.5:c.1055T>A	ENSP00000383362.1:p.Leu352His
ENST00000400519.6:c.1142T>A	ENSP00000383363.1:p.Leu381His
ENST00000400521.6:c.1145T>A	ENSP00000383365.1:p.Leu382His
ENST00000400525.6:c.1076T>A	ENSP00000383369.3:p.Leu359His
ENST00000462330.5:c.68T>A	ENSP00000485603.2:p.Leu23His
ENST00000462843.2:c.95T>A	ENSP00000485466.2:p.Leu32His
ENST00000474308.5:c.1088T>A	ENSP00000485665.1:p.Leu363His
ENST00000485358.5:c.113T>A	ENSP00000485499.2:p.Leu38His
ENST00000487165.5:n.1239T>A
ENST00000494454.5:n.1219T>A
ENST00000495655.2:n.689T>A
ENST00000542719.6:c.857T>A	ENSP00000485128.2:p.Leu286His
ENST00000634471.1:n.244-388T>A
ENST00000634537.1:c.374T>A	ENSP00000489208.1:p.Leu125His
NM_006440.4:c.1145T>A	NP_006431.2:p.Leu382His
NM_001352300.1:c.1142T>A	NP_001339229.1:p.Leu381His
NM_001352301.1:c.1055T>A	NP_001339230.1:p.Leu352His
NM_001352302.1:c.857T>A	NP_001339231.1:p.Leu286His
NR_147957.1:n.1277T>A
NM_006440.5:c.1145T>A MANE Select	NP_006431.2:p.Leu382His
NM_001352300.2:c.1142T>A	NP_001339229.1:p.Leu381His
NR_147957.2:n.1103T>A
NM_001352301.2:c.1055T>A	NP_001339230.1:p.Leu352His
NM_001352302.2:c.857T>A	NP_001339231.1:p.Leu286His