Canonical Allele Identifier: CA410681915

Gene: TXNRD2

Linked Data

• MyVariant Identifiers: chr22:g.19868161A>T (hg19) ; chr22:g.19880638A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880638A>T , CM000684.2:g.19880638A>T	GRCh38
NC_000022.10:g.19868161A>T , CM000684.1:g.19868161A>T	GRCh37
NC_000022.9:g.18248161A>T	NCBI36
NG_011835.1:g.66199T>A , LRG_417:g.66199T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.1166T>A MANE Select	ENSP00000383365.1:p.Leu389Gln
ENST00000400518.5:c.1076T>A	ENSP00000383362.1:p.Leu359Gln
ENST00000400519.6:c.1163T>A	ENSP00000383363.1:p.Leu388Gln
ENST00000400521.6:c.1166T>A	ENSP00000383365.1:p.Leu389Gln
ENST00000400525.6:c.1097T>A	ENSP00000383369.3:p.Leu366Gln
ENST00000462330.5:c.89T>A	ENSP00000485603.2:p.Leu30Gln
ENST00000462843.2:c.116T>A	ENSP00000485466.2:p.Leu39Gln
ENST00000474308.5:c.1109T>A	ENSP00000485665.1:p.Leu370Gln
ENST00000485358.5:c.134T>A	ENSP00000485499.2:p.Leu45Gln
ENST00000487165.5:n.1260T>A
ENST00000494454.5:n.1240T>A
ENST00000495655.2:n.710T>A
ENST00000542719.6:c.878T>A	ENSP00000485128.2:p.Leu293Gln
ENST00000634471.1:n.244-367T>A
ENST00000634537.1:c.395T>A	ENSP00000489208.1:p.Leu132Gln
NM_006440.4:c.1166T>A	NP_006431.2:p.Leu389Gln
NM_001352300.1:c.1163T>A	NP_001339229.1:p.Leu388Gln
NM_001352301.1:c.1076T>A	NP_001339230.1:p.Leu359Gln
NM_001352302.1:c.878T>A	NP_001339231.1:p.Leu293Gln
NR_147957.1:n.1298T>A
NM_006440.5:c.1166T>A MANE Select	NP_006431.2:p.Leu389Gln
NM_001352300.2:c.1163T>A	NP_001339229.1:p.Leu388Gln
NR_147957.2:n.1124T>A
NM_001352301.2:c.1076T>A	NP_001339230.1:p.Leu359Gln
NM_001352302.2:c.878T>A	NP_001339231.1:p.Leu293Gln